Canonical Allele Identifier: PA2825794659
Gene: MYO5A HGNC NCBI

Linked Data

ClinVar Variation Id: 242881
ClinVar RCV Id: RCV000490925
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135967.2:p.Ser1373Arg
CA392508824
NM_001142495.2:c.4119C>G
CA392508826
NM_001142495.2:c.4119C>A
CA392508838
NM_001142495.2:c.4117A>C