ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226305
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13172
ClinVar RCV Id:
RCV000014058
RCV000085017
RCV003887870
ClinVar Variation Id:
98705
ClinVar RCV Id:
RCV000085018
RCV001003139
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Asn244Lys
CA226304
NM_000322.5:c.732C>A
CA226306
NM_000322.5:c.732C>G