ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825853946
Gene: CHAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001136401.2:p.Arg228His
CA5497338
NM_001142929.2:c.683G>A