Canonical Allele Identifier: PA185989
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98666
ClinVar RCV Id: RCV000084969 RCV000161145 RCV001051727 RCV001074856 RCV001250317 RCV001353037 RCV001723663 RCV001250316 RCV002508140 RCV001250306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Tyr141Cys
CA185988
NM_000322.5:c.422A>G