ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139761775
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
966717
ClinVar RCV Id:
RCV001241461
RCV001835104
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_957705.1:p.Ser1129Phe
CA1312325
NM_201253.3:c.3386C>T