ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106718
Gene: L1CAM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000416.1:p.Cys264Tyr
NM_000425.5:c.791G>A