ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245309
Gene: RP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197270
ClinVar RCV Id:
RCV000178261
RCV001165450
RCV003133163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006260.1:p.Asp2066Asn
CA245308
NM_006269.2:c.6196G>A