ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA175086
Gene: ABAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000149898
ClinVar Variation:
162034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000654.2:p.Leu211Phe
CA175085
NM_000663.5:c.631C>T