ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826447125
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
99897
ClinVar RCV Id:
RCV000086342
RCV001075774
RCV001250617
RCV001378740
RCV003453029
RCV003453028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244894.1:p.Leu1083Pro
CA228036
NM_001257965.2:c.3248T>C