Canonical Allele Identifier: PA2828063055
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 2769686
ClinVar RCV Id: RCV003578860

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349448.1:p.Glu389Gln
CA413787475
NM_001362519.1:c.1165G>C