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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:
CA2580088021
Gene: MYH7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1781939
ClinVar RCV Id:
RCV002415356
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23427574_23427593del , CM000676.2:g.23427574_23427593del
GRCh38
NC_000014.8:g.23896783_23896802del , CM000676.1:g.23896783_23896802del
GRCh37
NC_000014.7:g.22966623_22966642del
NCBI36
NG_007884.1:g.13073_13092del , LRG_384:g.13073_13092del
Transcript Alleles
HGVS
Amino-acid change
ENST00000355349.4:c.1884_1888+15del
ENST00000355349.3:c.1884_1888+15del
NM_000257.3:c.1884_1888+15del
XR_245686.3:n.1990_1994+15del
XM_017021340.1:c.1884_1888+15del
NM_000257.4:c.1884_1888+15del
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