ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573094647
Gene: CHAT
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000291500
RCV000726404
RCV003155154
ClinVar Variation:
289944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066266.4:p.Arg89His
CA5497204
NM_020986.4:c.266G>A