Canonical Allele Identifier: PA2499231999
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1052521
ClinVar RCV Id: RCV001360720
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Pro530Leu
CA413787522
NM_000390.4:c.1589C>T