ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645511053
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438072
ClinVar RCV Id:
RCV000504745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_957705.1:p.Lys673Glu
CA344033430
NM_201253.3:c.2017A>G