Canonical Allele Identifier: PA180348
Gene: PRPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 138906
ClinVar RCV Id: RCV000127756 RCV000153779 RCV000338398 RCV000277323 RCV000388148 RCV000373093 RCV000280986 RCV000316146 RCV001511183 RCV001789200 RCV001789199 RCV003888536
ClinVar Variation Id: 478304
ClinVar RCV Id: RCV000556957
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000313.2:p.Asp338Gly
CA180347
NM_000322.5:c.1013A>G
CA658657593
NM_000322.5:c.1013_1014delinsGT