ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098276
Gene: ACTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019942
RCV001090700
ClinVar Variation:
18280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Asn117Ser
CA258132
NM_001100.4:c.350A>G