ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826192283
Gene: CRB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
195794
ClinVar RCV:
RCV000488061
RCV001087243
RCV001376275
RCV001563786
RCV003888637
ClinVar Variation:
198633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Thr709Met
CA247395
NM_001193640.2:c.2126C>T