ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830459451
Gene: ACACA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1477338
ClinVar RCV:
RCV001939018
ClinVar Variation:
1429605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_942135.1:p.Thr2132Ser
CA399239771
NM_198838.2:c.6394A>T