ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026580
Gene: PRPF4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143057
ClinVar RCV Id:
RCV000132564
RCV001268585
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309196.1:p.Pro72Leu
CA170079
NM_001322267.2:c.215C>T