ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827512347
Gene: PRPF38B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336690.1:p.Arg178Trp
CA980655
NM_001349761.2:c.532C>T