Canonical Allele Identifier: PA915980704
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43134
ClinVar RCV Id: RCV000036038 RCV000765013 RCV001034270 RCV001109647 RCV001109646 RCV001109645 RCV001274696 RCV001526682 RCV001775058 RCV004534752
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120652.1:p.Arg336His
CA132194
NM_001127180.2:c.1007G>A