Canonical Allele Identifier: PA2828199478
Gene: PAX4 HGNC NCBI
ClinVar RCV:
RCV002012173
ClinVar Variation:
1448516
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353039.1:p.Thr213Met
CA4468016
NM_001366110.1:c.638C>T