Canonical Allele Identifier: PA2573167985
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1387332
ClinVar RCV Id: RCV001883995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Ala128Val
CA413787305
NM_000390.4:c.383C>T