Canonical Allele Identifier: PA645427330
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 229005
ClinVar RCV Id: RCV000220951 RCV000337813 RCV000299195 RCV000390552 RCV000585568 RCV000787855 RCV001276699 RCV001375348
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000251.3:p.Glu1095Lys
CA6198019
NM_000260.4:c.3283G>A