Canonical Allele Identifier: PA915980725
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43136
ClinVar RCV Id: RCV000036040 RCV000668099 RCV001762113 RCV001831625
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120652.1:p.Arg378His
CA132198
NM_001127180.2:c.1133G>A