ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916009913
Gene: L1CAM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265045.1:p.Ser1194Leu
CA254960
NM_001278116.2:c.3581C>T