Canonical Allele Identifier: PA915980735
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43135
ClinVar RCV Id: RCV000036039 RCV000665432 RCV001111945 RCV001111946 RCV001111947 RCV001831624 RCV001075067 RCV001247583
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120652.1:p.Arg378Cys
CA132196
NM_001127180.2:c.1132C>T