Canonical Allele Identifier: PA2828062499
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1122966
ClinVar RCV Id: RCV001453827 RCV004038529
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349447.1:p.Ser49Gly
CA10465559
NM_001362518.1:c.145A>G