ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953407
Gene: ACAT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000844784
ClinVar Variation:
666479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Ala127Val
CA382506775
NM_000019.4:c.380C>T