Canonical Allele Identifier: PA2827061855
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 2769686
ClinVar RCV Id: RCV003578860

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307888.1:p.Glu389Gln
CA413787475
NM_001320959.1:c.1165G>C