ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA126279
Gene: ABAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000017603
ClinVar Variation:
16216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065737.2:p.Arg220Lys
CA126278
NM_020686.6:c.659G>A