Canonical Allele Identifier: PA2828319558
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 438180
ClinVar RCV Id: RCV000505169 RCV000666535 RCV001380427 RCV001542592 RCV001829440
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356294.1:p.Arg230Cys
CA6197223
NM_001369365.1:c.688C>T