ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499257607
Gene: ACAT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2841
ClinVar RCV Id:
RCV000002975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373606.1:p.Glu345del
CA252466
NM_001386677.1:c.1035_1037del