ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829960343
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17515
ClinVar RCV Id:
RCV000019067
RCV001813998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066265.4:p.Ile218Thr
CA258002
NM_020985.4:c.653T>C