ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829116669
Gene: ABAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373530.1:p.Ala485Thr
CA277475959
NM_001386601.1:c.1453G>A