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: PA2573062010

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315955

ClinVar RCV Id: RCV001757402 RCV002540625

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000248.2:p.Ala393Asp	CA389051178 NM_000257.4:c.1178C>A