Canonical Allele Identifier: PA122937
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13170
ClinVar RCV Id: RCV000014056 RCV000084981 RCV001049315 RCV001250348 RCV001250349 RCV001250351 RCV002466402 RCV001003147 RCV001250350 RCV001250352 RCV001352972 RCV003887869
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Arg172Trp
CA122936
NM_000322.5:c.514C>T