ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826621000
Gene: PAX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001267481.1:p.Ser213Leu
CA161367
NM_001280552.2:c.638C>T