ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573079744
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_001373544.1:p.Arg252Lys
CA126278
NM_001386615.1:c.755G>A