Canonical Allele Identifier: PA645398263
Gene: L1CAM HGNC NCBI

Linked Data

ClinVar Variation Id: 392922
ClinVar RCV Id: RCV000433806

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000416.1:p.Phe781Leu
CA16608779
NM_000425.5:c.2343C>G
CA415120205
NM_000425.5:c.2343C>A
CA415120221
NM_000425.5:c.2341T>C