Canonical Allele Identifier: PA2741817489
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 2833750
ClinVar RCV Id: RCV003692150
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.His122Asn
CA413787346
NM_000390.4:c.364C>A