Canonical Allele Identifier: PA645510130
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 438671
ClinVar RCV Id: RCV000505604 RCV003757183
ClinVar Variation Id: 942898
ClinVar RCV Id: RCV001212981
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Ser212Arg
CA3808564
NM_000322.5:c.634A>C
CA364135600
NM_000322.5:c.636C>G
CA364135602
NM_000322.5:c.636C>A