ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829118300
Gene: ABAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373535.1:p.Pro185Ser
CA394688732
NM_001386606.1:c.553C>T