ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499237394
Gene: MYO5B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001342221
RCV002290691
RCV002546953
RCV003416238
ClinVar Variation:
1038856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073936.1:p.Arg999Cys
CA8960881
NM_001080467.3:c.2995C>T