Canonical Allele Identifier: PA226323
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98715
ClinVar RCV Id: RCV000085028 RCV001161271 RCV001250360 RCV001438086
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Ser289Leu
CA226322
NM_000322.5:c.866C>T