ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826621234
Gene: PAX5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001267484.1:p.Ser147Leu
CA161367
NM_001280555.2:c.440C>T