Canonical Allele Identifier: PA2828319971
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 517357
ClinVar RCV Id: RCV000613132 RCV000710344 RCV001043882 RCV001110608 RCV001110609 RCV001110610 RCV001272496
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356294.1:p.Arg595His
CA6197622
NM_001369365.1:c.1784G>A