Canonical Allele Identifier: PA2828062147
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 3028620
ClinVar RCV Id: RCV003890485
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349446.1:p.Thr58Ser
CA413786546
NM_001362517.1:c.173C>G
CA413786549
NM_001362517.1:c.172A>T