Canonical Allele Identifier: PA2828063050
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1038457
ClinVar RCV Id: RCV001341772

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349448.1:p.Thr384Asn
CA413787509
NM_001362519.1:c.1151C>A