ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915953593
Gene: ACAT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000844837
RCV003396461
ClinVar Variation:
666528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Asn375Ser
CA6263368
NM_000019.4:c.1124A>G