Canonical Allele Identifier: PA2828319973
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 1982954
ClinVar RCV Id: RCV002785681
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356294.1:p.Ser596Leu
CA6197623
NM_001369365.1:c.1787C>T