Canonical Allele Identifier: PA658675426
Gene: HUWE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 451359
ClinVar RCV Id: RCV000519152

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_113584.3:p.Phe4299Leu
CA413144754
NM_031407.7:c.12897T>A
CA413144755
NM_031407.7:c.12897T>G
CA413144769
NM_031407.7:c.12895T>C