ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826580803
Gene: L1CAM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1421339
ClinVar RCV Id:
RCV001923741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265045.1:p.Val748Ala
CA10554200
NM_001278116.2:c.2243T>C