ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580276554
Gene: LAMB2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002283.3:p.Arg334His
CA2394731
NM_002292.4:c.1001G>A