ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100312
Gene: ACTC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005150.1:p.His90Tyr
CA019710
NM_005159.5:c.268C>T