ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA278975
Gene: CRX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216914
ClinVar RCV Id:
RCV000197997
RCV001075515
RCV002517299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000545.1:p.Glu42Lys
CA278974
NM_000554.6:c.124G>A