Canonical Allele Identifier: PA2828319556
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43340
ClinVar RCV Id: RCV000036247 RCV000622429 RCV001291466 RCV001852752 RCV003323371
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356294.1:p.Arg230His
CA278714
NM_001369365.1:c.689G>A