Canonical Allele Identifier: PA2499231980
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1144780
ClinVar RCV Id: RCV001483396
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000381.1:p.Leu124Phe
CA10465583
NM_000390.4:c.370C>T