ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829960007
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194108
ClinVar RCV Id:
RCV000174391
RCV002516629
RCV000531062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066264.4:p.Val473Met
CA239932
NM_020984.4:c.1417G>A