ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA303631
Gene: ACTA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000181017
RCV002245983
RCV003996591
ClinVar Variation:
199668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135417.1:p.Asp83Asn
CA006882
NM_001141945.2:c.247G>A