ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825834698
Gene: ACTA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135417.1:p.Lys330Thr
CA377510645
NM_001141945.2:c.989A>C