ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829120588
Gene: ABAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000149900
ClinVar Variation:
162036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373542.1:p.Arg47Gln
CA175091
NM_001386613.1:c.140G>A