ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827512283
Gene: PRPF38B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336686.1:p.Arg212Trp
CA980655
NM_001349757.2:c.634C>T