ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA175093
Gene: ABAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162036
ClinVar RCV Id:
RCV000149900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065737.2:p.Arg92Gln
CA175091
NM_020686.6:c.275G>A