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: PA2828320987

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 934346

ClinVar RCV Id: RCV001202713 RCV001828626

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001356294.1:p.Pro1471Leu	CA381950210 NM_001369365.1:c.4412C>T