Canonical Allele Identifier: PA2580115298
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1942416
ClinVar RCV Id: RCV002646793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Ser445Leu
CA413789582
NM_000390.4:c.1334C>T