Canonical Allele Identifier: PA2499231979
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1038440
ClinVar RCV Id: RCV001341749 RCV001825872
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Ala123Val
CA10465584
NM_000390.4:c.368C>T