ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA261713
Gene: ACTC1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005150.1:p.Arg185Trp
NM_005159.5:c.553C>T