Canonical Allele Identifier: PA122931
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13167
ClinVar RCV Id: RCV000014053 RCV000084982 RCV000787664 RCV001250353 RCV001250367 RCV001074392 RCV000787663 RCV001054658 RCV001799605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Arg172Gln
CA122930
NM_000322.5:c.515G>A