ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA170734
Gene: PAX2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003981.2:p.Arg56Gln
CA170733
NM_003990.3:c.167G>A