ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145605
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92295
ClinVar RCV Id:
RCV000077929
RCV000391653
RCV001647046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000010.1:p.Ala5Pro
CA145604
NM_000019.4:c.13G>C