ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097323
Gene: PRPF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3353
ClinVar RCV Id:
RCV000003517
RCV001565464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004689.1:p.Pro493Ser
CA252737
NM_004698.4:c.1477C>T