Canonical Allele Identifier: PA2828319966
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 505864
ClinVar RCV Id: RCV000601443 RCV001201549 RCV001276680 RCV002483679
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356294.1:p.Lys594Arg
CA224836056
NM_001369365.1:c.1781A>G