Canonical Allele Identifier: PA2573167988
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1480853
ClinVar RCV Id: RCV001988165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Ala133Val
CA332655375
NM_000390.4:c.398C>T