ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829961505
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444825
ClinVar RCV Id:
RCV001955999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066266.4:p.Arg448Cys
CA5497596
NM_020986.4:c.1342C>T