ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829117039
Gene: ABAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000149899
ClinVar Variation:
162035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373531.1:p.Leu478Pro
CA175088
NM_001386602.1:c.1433T>C