ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829374340
Gene: LAMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
463158
ClinVar RCV Id:
RCV000560180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002285.1:p.Cys189Tyr
CA10505281
NM_002294.3:c.566G>A