ClinGen Allele Registry
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Canonical Allele Identifier:
PA172447
Gene: L1CAM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158794
ClinVar RCV Id:
RCV000146245
RCV000431818
RCV001847778
RCV002453468
RCV002515965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000416.1:p.Arg846Leu
CA172446
NM_000425.5:c.2537G>T