Canonical Allele Identifier: PA278741
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 178993
ClinVar RCV Id: RCV000155771 RCV000225087 RCV000506187 RCV001254945 RCV001850134 RCV004528892
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000251.3:p.Ala230Val
CA278740
NM_000260.4:c.689C>T