ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826447976
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2554906
ClinVar RCV Id:
RCV003277782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244895.1:p.Leu599Phe
CA344032631
NM_001257966.2:c.1795C>T