Canonical Allele Identifier: PA645407408
Gene: PRPF8 HGNC NCBI

Linked Data

ClinVar Variation Id: 321907
ClinVar RCV Id: RCV000276040 RCV001046592 RCV004021691
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_006436.3:p.Lys623Asn
CA8272227
NM_006445.4:c.1869G>C
CA397557866
NM_006445.4:c.1869G>T