Allele Registry

Canonical Allele Identifier: PA2829960246

Gene: CHAT HGNC NCBI

ClinVar RCV:

RCV000116699

RCV000552676

RCV000676664

ClinVar Variation:

128726

HGVS (amino-acid)	Matching Registered Transcripts
NP_066265.4:p.Leu125Phe	CA152358 NM_020985.4:c.373C>T