ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123478
Gene: PAX4
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006184.2:p.Arg37Trp
CA123477
NM_006193.2:c.109C>T