Canonical Allele Identifier: PA2828062139
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 2753575
ClinVar RCV Id: RCV003568908
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349446.1:p.Glu46Gly
CA413786689
NM_001362517.1:c.137A>G