ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825834226
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2585754
ClinVar RCV Id:
RCV003338958
RCV003517486
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135417.1:p.Gly48Glu
CA377513539
NM_001141945.2:c.143G>A