ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226327
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98718
ClinVar RCV Id:
RCV000085031
RCV001857417
RCV002247484
RCV003324505
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Gly305Asp
CA226326
NM_000322.5:c.914G>A