ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120873
Gene: LAMP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_002285.1:p.Val310Ile
NM_002294.3:c.928G>A