Canonical Allele Identifier: PA180352
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 138904
ClinVar RCV Id: RCV000153781 RCV000285041 RCV000288514 RCV000391586 RCV000324837 RCV000339530 RCV000379504 RCV001511185 RCV001789195 RCV001789196 RCV003888534
ClinVar Variation Id: 707252
ClinVar RCV Id: RCV000878173
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Gln304Glu
CA180351
NM_000322.5:c.910C>G
CA915944249
NM_000322.5:c.909_910delinsTG