ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916046092
Gene: PAX4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353040.1:p.Arg200Ser
CA4468020
NM_001366111.1:c.598C>A