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: PA278626

Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43145

ClinVar RCV Id: RCV000036049 RCV000675070 RCV001315656 RCV001831627

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000251.3:p.Arg467_His468insGln	CA278625 NM_000260.4:c.1401_1403dup