ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827549208
Gene: PRPF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3354
ClinVar RCV Id:
RCV000003518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337458.1:p.Ala354Asp
CA252738
NM_001350529.1:c.1061C>A