Canonical Allele Identifier: PA2828062241
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1079569
ClinVar RCV Id: RCV001394907 RCV003169960
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349446.1:p.Arg219Trp
CA10465473
NM_001362517.1:c.655C>T