Canonical Allele Identifier: PA111340
Gene: HJV HGNC NCBI

Linked Data

ClinVar Variation Id: 2537225
ClinVar RCV Id: RCV004306803

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_998818.1:p.Asp172Glu
CA1053841
NM_213653.4:c.516C>G
CA342139749
NM_213653.4:c.516C>A