ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826192031
Gene: CRB1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171164
RCV001563787
RCV001563788
ClinVar Variation:
190991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180569.1:p.Ala483Thr
CA235770
NM_001193640.2:c.1447G>A