ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499304644
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1012084
ClinVar RCV Id:
RCV001309982
RCV001835525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_957705.1:p.Thr977Lys
CA344043681
NM_201253.3:c.2930C>A