ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226243
Gene: PRPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98673
ClinVar RCV Id:
RCV000084978
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000313.2:p.Asn169del
CA226242
NM_000322.5:c.505_507del