ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA098207
Gene: ACTA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000541948
ClinVar Variation:
464125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001091.1:p.Arg185Cys
CA345148281
NM_001100.4:c.553C>T