ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827549214
Gene: PRPF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3352
ClinVar RCV Id:
RCV000003516
RCV000726757
RCV001003129
RCV001074785
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337458.1:p.Thr359Met
CA252736
NM_001350529.1:c.1076C>T