Canonical Allele Identifier: PA2828890394
Gene: MYO5A HGNC NCBI

Linked Data

ClinVar Variation Id: 242881
ClinVar RCV Id: RCV000490925
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369276.1:p.Ser1400Arg
CA392508824
NM_001382347.1:c.4200C>G
CA392508826
NM_001382347.1:c.4200C>A
CA392508838
NM_001382347.1:c.4198A>C