Canonical Allele Identifier: PA2828062374
Gene: CHM HGNC NCBI

Linked Data

ClinVar Variation Id: 1355379
ClinVar RCV Id: RCV001876487
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349446.1:p.Ile388Leu
CA413787481
NM_001362517.1:c.1162A>C
CA413787482
NM_001362517.1:c.1162A>T