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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:
CA2123413457
Gene: MYH6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.23392869C= , CM000676.2:g.23392869C=
GRCh38
NC_000014.8:g.23862078C= , CM000676.1:g.23862078C=
GRCh37
NC_000014.7:g.22931918C=
NCBI36
NG_023444.1:g.20409G= , LRG_389:g.20409G=
Transcript Alleles
HGVS
Amino-acid change
ENST00000405093.9:c.3251+43G=
MANE Select
ENSP00000386041.3:n.3251+43G=
ENST00000356287.3:c.3251+43G=
ENSP00000348634.3:n.3251+43G=
ENST00000405093.7:c.3251+43G=
ENSP00000386041.3:n.3251+43G=
NM_002471.3:c.3251+43G= , LRG_389t1:c.3251+43G=
NP_002462.2:n.3251+43G=
NM_002471.4:c.3251+43G=
MANE Select
NP_002462.2:n.3251+43G=
Search 100 bp 5'
Search 100 bp 3'