ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098826
Gene: ACTA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
18291
ClinVar RCV Id:
RCV000019953
RCV002513127
RCV003151736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Pro334Ser
CA341499
NM_001100.4:c.1000C>T