Canonical Allele Identifier: PA645472271
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419521
ClinVar RCV Id: RCV000479139 RCV002525801 RCV001250338
ClinVar Variation Id: 1482978
ClinVar RCV Id: RCV002025314
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Cys250Ser
CA16618285
NM_000322.5:c.748T>A
CA364134978
NM_000322.5:c.749G>C