ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573256373
Gene: LAMP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002037657
ClinVar Variation:
1452436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054701.1:p.Val310Leu
CA414400263
NM_013995.2:c.928G>C