Canonical Allele Identifier: PA122947
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13183
ClinVar RCV Id: RCV000014071 RCV000084971 RCV000678606 RCV000787661 RCV001061048 RCV001003149 RCV001353001 RCV001075677 RCV001250318 RCV001250320 RCV001250319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Arg142Trp
CA122946
NM_000322.5:c.424C>T