Allele Registry

Canonical Allele Identifier: PA2828062307

Gene: CHM HGNC NCBI

ClinVar RCV:

RCV002646793

ClinVar Variation:

1942416

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349446.1:p.Ser297Leu	CA413789582 NM_001362517.1:c.890C>T