ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827512536
Gene: PRPF38B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336699.1:p.Arg126Trp
CA980655
NM_001349770.2:c.376C>T