Allele Registry

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.

Canonical Allele Identifier: PA2573062030

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1316213

ClinVar RCV Id: RCV001766119

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000248.2:p.Gly253Arg	CA389052114 NM_000257.4:c.757G>C CA389052115 NM_000257.4:c.757G>A