ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645485489
Gene: LAMB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
345978
ClinVar RCV Id:
RCV000309451
RCV000407789
RCV001476396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002283.3:p.Arg1457Trp
CA2393804
NM_002292.4:c.4369C>T