ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573065221
Gene: ACTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1303501
ClinVar RCV Id:
RCV001762959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Gly344Arg
CA345144738
NM_001100.4:c.1030G>C