ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826192496
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236473
ClinVar RCV Id:
RCV000225544
RCV002519764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Ser894Phe
CA10581632
NM_001193640.2:c.2681C>T