Canonical Allele Identifier: PA2828199450
Gene: PAX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2580177
ClinVar RCV Id: RCV003329142 RCV003720847
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001353039.1:p.Ser75Arg
CA4468156
NM_001366110.1:c.225C>G
CA369176424
NM_001366110.1:c.225C>A
CA369176440
NM_001366110.1:c.223A>C