ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829960707
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2301069
ClinVar RCV Id:
RCV002883348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066265.4:p.Arg448Pro
CA376747546
NM_020985.4:c.1343G>C