ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580254400
Gene: ACTA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2025269
ClinVar RCV Id:
RCV002853028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001604.1:p.Val47del
CA2580615565
NM_001613.4:c.140_142del