Canonical Allele Identifier: PA2828319887
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 228279
ClinVar RCV Id: RCV000222836 RCV000308007 RCV000394833 RCV000344299 RCV000675049 RCV001272494 RCV001853425
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356294.1:p.Pro529His
CA6197533
NM_001369365.1:c.1586C>A