Allele Registry

Canonical Allele Identifier: PA2580115298

Gene: CHM HGNC NCBI

ClinVar RCV:

RCV002646793

ClinVar Variation:

1942416

HGVS (amino-acid)	Matching Registered Transcripts
NP_000381.1:p.Ser445Leu	CA413789582 NM_000390.4:c.1334C>T