Canonical Allele Identifier: PA2828062501
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1971865
ClinVar RCV Id: RCV002745760
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349447.1:p.Glu50Gly
CA10465558
NM_001362518.1:c.149A>G