ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829120024
Gene: ABAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373540.1:p.Leu166Phe
CA175085
NM_001386611.1:c.496C>T