ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916072278
Gene: L1CAM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_076493.1:p.Pro240Leu
CA120882
NM_024003.3:c.719C>T