ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829119610
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_001373539.1:p.Arg47Gln
CA175091
NM_001386610.1:c.140G>A