ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573095544
Gene: L1CAM
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_076493.1:p.Arg383Trp
CA10554418
NM_024003.3:c.1147C>T