ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826191634
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003086496
ClinVar Variation:
2167543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Pro73Leu
CA344085295
NM_001193640.2:c.218C>T