ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826446594
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374588
ClinVar RCV Id:
RCV000416024
RCV001199671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244894.1:p.Pro548Gln
CA16043804
NM_001257965.2:c.1643C>A