ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826581067
Gene: L1CAM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423636
ClinVar RCV Id:
RCV000479930
RCV002525939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265045.1:p.Glu1175Lys
CA16621229
NM_001278116.2:c.3523G>A