ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825581672
Gene: LAMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1012887
ClinVar RCV Id:
RCV002070142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001116078.1:p.Gln178Arg
CA10505294
NM_001122606.1:c.533A>G