Canonical Allele Identifier: PA2828319651
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43134
ClinVar RCV Id: RCV000036038 RCV000765013 RCV001034270 RCV001109647 RCV001109646 RCV001109645 RCV001274696 RCV001526682 RCV001775058 RCV004534752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356294.1:p.Arg325His
CA132194
NM_001369365.1:c.974G>A