Canonical Allele Identifier: PA915980776
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 228999
ClinVar RCV Id: RCV000218429 RCV000358625 RCV000303792 RCV000405741 RCV000725835 RCV001274698 RCV004020628
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120652.1:p.Arg430Cys
CA6197444
NM_001127180.2:c.1288C>T