ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573080789
Gene: ACTG1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001754724
ClinVar Variation:
1308836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001605.1:p.Tyr240His
CA401459975
NM_001614.5:c.718T>C