ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573094222
Gene: CHAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461451
ClinVar RCV Id:
RCV000553566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065574.4:p.Pro552Ser
CA5497585
NM_020549.5:c.1654C>T