ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827549210
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_001337458.1:p.Pro358Ser
CA252737
NM_001350529.1:c.1072C>T