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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2580088037
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1783045
ClinVar RCV Id:
RCV002413172
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23433506_23433539delinsAGTC , CM000676.2:g.23433506_23433539delinsAGTC
GRCh38
NC_000014.8:g.23902715_23902748delinsAGTC , CM000676.1:g.23902715_23902748delinsAGTC
GRCh37
NC_000014.7:g.22972555_22972588delinsAGTC
NCBI36
NG_007884.1:g.7123_7156delinsGACT , LRG_384:g.7123_7156delinsGACT
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.194_201+26delinsGACT
ENST00000355349.3:c.194_201+26delinsGACT
NM_000257.3:c.194_201+26delinsGACT
XR_245686.3:n.300_307+26delinsGACT
XM_017021340.1:c.194_201+26delinsGACT
NM_000257.4:c.194_201+26delinsGACT
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