Canonical Allele Identifier: PA2580115268
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 2281102
ClinVar RCV Id: RCV002835843
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.His122Arg
CA10465586
NM_000390.4:c.365A>G