ClinGen Allele Registry
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Canonical Allele Identifier:
PA109571
Gene: PRPF8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438226
ClinVar RCV Id:
RCV000504770
RCV001257799
RCV001231748
RCV001542603
RCV003889914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006436.3:p.Arg2310Gly
CA397562024
NM_006445.4:c.6928A>G