ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825607334
Gene: ABAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120920.1:p.Ala485Thr
CA277475959
NM_001127448.2:c.1453G>A