ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580344497
Gene: PRPF8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2090603
ClinVar RCV Id:
RCV003013186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006436.3:p.Asn2300Asp
CA397562269
NM_006445.4:c.6898A>G