ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106969
Gene: L1CAM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000416.1:p.Tyr784Cys
CA205417
NM_000425.5:c.2351A>G