ClinGen Allele Registry
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Canonical Allele Identifier:
PA270014
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143069
ClinVar RCV Id:
RCV000132578
RCV001074625
RCV001388979
RCV001530286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Gly137Asp
CA270013
NM_000322.5:c.410G>A