ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226292
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98698
ClinVar RCV Id:
RCV000085010
RCV000787873
RCV001075102
RCV001247286
RCV001250379
RCV002288583
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Arg220Trp
CA226291
NM_000322.5:c.658C>T