ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2499231058
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1175249
ClinVar RCV Id:
RCV001530291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Leu39Pro
CA364138738
NM_000322.5:c.116T>C