ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741814524
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2628022
ClinVar RCV Id:
RCV003389572
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Ile177Ser
CA364137352
NM_000322.5:c.530T>G