Canonical Allele Identifier: PA2825627931
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 228282
ClinVar RCV Id: RCV000675133 RCV003126609 RCV000223094 RCV001275529 RCV001449942
ClinVar Variation Id: 2695558
ClinVar RCV Id: RCV003542162
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120652.1:p.Lys1983Arg
CA10576905
NM_001127180.2:c.5948A>G
CA2697548854
NM_001127180.2:c.5948_5949delinsGA