Canonical Allele Identifier: PA2828320089
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 623785
ClinVar RCV Id: RCV000761793 RCV001825508 RCV002533881
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356294.1:p.Pro683Leu
CA6197679
NM_001369365.1:c.2048C>T