ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA344559
Gene: ACTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42107
ClinVar RCV Id:
RCV000034934
RCV001198948
RCV000693406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Glu6Lys
CA344557
NM_001100.4:c.16G>A