Canonical Allele Identifier: PA658748393
Gene: PRPF31 HGNC NCBI

Linked Data

ClinVar Variation Id: 493270
ClinVar RCV Id: RCV001199737 RCV000585399
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056444.3:p.Lys140Asn
CA407750150
NM_015629.4:c.420G>C
CA407750151
NM_015629.4:c.420G>T