Canonical Allele Identifier: PA2828062123
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1166386
ClinVar RCV Id: RCV001514541
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349446.1:p.Ala24Thr
CA10465565
NM_001362517.1:c.70G>A