ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA303654
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000181026
RCV000473240
RCV002390447
ClinVar Variation:
199674
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135417.1:p.Glu255Lys
CA007012
NM_001141945.2:c.763G>A