ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826448018
Gene: CRB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
73455
ClinVar RCV Id:
RCV000505040
RCV001854256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001244895.1:p.Ser638Leu
CA1311998
NM_001257966.2:c.1913C>T