ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915960313
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
707592
ClinVar RCV Id:
RCV001250329
RCV001530346
RCV000878664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Ile161Met
CA3808606
NM_000322.5:c.483C>G