ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829952020
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17513
ClinVar RCV Id:
RCV000019065
RCV000235033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066264.4:p.Ile187Thr
CA257996
NM_020984.4:c.560T>C