ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120872
Gene: LAMP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001116078.1:p.Val310Ile
NM_001122606.1:c.928G>A