ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139716646
Gene: LAMB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
847455
ClinVar RCV Id:
RCV001051003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002283.3:p.Glu1506Lys
CA352691954
NM_002292.4:c.4516G>A