Canonical Allele Identifier: PA180350
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 138905
ClinVar RCV Id: RCV000153780 RCV000277056 RCV000273176 RCV000382760 RCV000332083 RCV000367746 RCV000328116 RCV001511184 RCV001789197 RCV001789198 RCV003114279 RCV003888535
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Arg310Lys
CA180349
NM_000322.5:c.929G>A