ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139716199
Gene: CRYBB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
900138
ClinVar RCV Id:
RCV001145133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001878.1:p.Ala5Thr
CA411035127
NM_001887.4:c.13G>A