ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829118687
Gene: ABAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171244
ClinVar Variation:
191066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373536.1:p.Asp216Asn
CA235947
NM_001386607.1:c.646G>A