Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: CHM HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_006724678.1:p.Val250Leu	CA413785962 XM_006724615.2:c.748G>T CA413785963 XM_006724615.2:c.748G>C