ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580135148
Gene: LAMB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2367431
ClinVar RCV Id:
RCV002991921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121113.1:p.Arg347Gln
CA1375712
NM_001127641.1:c.1040G>A