Canonical Allele Identifier: PA2828063049
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1052521
ClinVar RCV Id: RCV001360720
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349448.1:p.Pro382Leu
CA413787522
NM_001362519.1:c.1145C>T