ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828635882
Gene: PTBP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362847.1:p.Leu485Phe
CA5190258
NM_001375918.1:c.1453C>T