Allele Registry

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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