ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828635899
Gene: PTBP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362849.1:p.Leu416Phe
CA5190258
NM_001375920.1:c.1246C>T