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: PA2825114619

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1024657

ClinVar RCV Id: RCV001324871

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000251.3:p.Lys164Asn	CA381931779 NM_000260.4:c.492G>T CA381931780 NM_000260.4:c.492G>C