Canonical Allele Identifier: PA2573167981
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1496213
ClinVar RCV Id: RCV002028458
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Gln119Arg
CA413787366
NM_000390.4:c.356A>G