ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829374073
Gene: LAMB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3117601
ClinVar RCV Id:
RCV004409912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002283.3:p.Leu1390Phe
CA2393855
NM_002292.4:c.4168C>T