ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073461835
Gene: PAX4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353039.1:p.Arg172Gly
CA369174442
NM_001366110.1:c.514C>G