Canonical Allele Identifier: PA226332
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 98721
ClinVar RCV Id: RCV000085034 RCV000261808 RCV000301680 RCV000406549 RCV000298015 RCV000356624 RCV000787872 RCV001066591 RCV001250365 RCV001250366
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Pro313Leu
CA226331
NM_000322.5:c.938C>T