ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829585841
Gene: PTBP3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005147.3:p.Leu516Phe
CA5190258
NM_005156.7:c.1546C>T