ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120874
Gene: LAMP2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_054701.1:p.Val310Ile
NM_013995.2:c.928G>A