Canonical Allele Identifier: PA2828827381
Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 2537225
ClinVar RCV Id: RCV004306803
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366281.1:p.Asp172Glu
CA1053841
NM_001379352.1:c.516C>G
CA342139749
NM_001379352.1:c.516C>A