ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098383
Gene: ACTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019951
RCV001028007
RCV003151734
ClinVar Variation:
18289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Asp294Val
CA341495
NM_001100.4:c.881A>T