Canonical Allele Identifier: PA122929
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13165
ClinVar RCV Id: RCV000014051 RCV000084987 RCV000149464 RCV000149466 RCV001075516 RCV001378481 RCV001530305 RCV001250378
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Leu185Pro
CA122928
NM_000322.5:c.554T>C