ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997608
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99898
ClinVar RCV Id:
RCV000086343
RCV001250629
RCV002514529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Leu995Arg
CA228037
NM_001193640.2:c.2984T>G