Canonical Allele Identifier: PA122939
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13173
ClinVar RCV Id: RCV000084997 RCV000322776 RCV001074849 RCV001250286 RCV001250287 RCV001250288 RCV002508119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Pro210Arg
CA122938
NM_000322.5:c.629C>G