ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825581666
Gene: LAMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1949612
ClinVar RCV Id:
RCV002676348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116078.1:p.Val164Ile
CA414402068
NM_001122606.1:c.490G>A