ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139726555
Gene: CHAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065574.4:p.Arg346His
CA5497338
NM_020549.5:c.1037G>A