Canonical Allele Identifier: PA2580115297
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 2138623
ClinVar RCV Id: RCV003064744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Met443Val
CA413789619
NM_000390.4:c.1327A>G