Canonical Allele Identifier: PA2825154514
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1166386
ClinVar RCV Id: RCV001514541
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Ala172Thr
CA10465565
NM_000390.4:c.514G>A