ClinGen Allele Registry
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Canonical Allele Identifier:
PA270016
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143070
ClinVar RCV Id:
RCV000132579
RCV000438661
RCV001055454
RCV001073378
RCV001250331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Gly167Ser
CA270015
NM_000322.5:c.499G>A