Allele Registry

Canonical Allele Identifier: PA2825154409

Gene: CHM HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000381.1:p.Val69Leu	CA10465621 NM_000390.4:c.205G>C CA413788173 NM_000390.4:c.205G>T