Canonical Allele Identifier: PA2825154530
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 3028621
ClinVar RCV Id: RCV003890486
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Pro189Thr
CA413786743
NM_000390.4:c.565C>A