ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA135686
Gene: ACTC1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
54358
ClinVar RCV:
RCV000038341
RCV000808186
RCV000853444
ClinVar Variation:
45191
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005150.1:p.Ile284Phe
CA019962
NM_005159.5:c.850A>T