Canonical Allele Identifier: PA2499231982
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1153913
ClinVar RCV Id: RCV001495730
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Thr141Met
CA10465579
NM_000390.4:c.422C>T