ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091054
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92297
ClinVar RCV Id:
RCV000077931
RCV000179235
RCV003915046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Asn158Asp
CA220226
NM_000019.4:c.472A>G