ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139673432
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
973726
ClinVar RCV Id:
RCV001250368
RCV001530229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Trp174Ser
CA364137375
NM_000322.5:c.521G>C