ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645418927
Gene: PAX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006183.2:p.Arg39Cys
CA9786386
NM_006192.5:c.115C>T