ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573256368
Gene: LAMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1521589
ClinVar RCV Id:
RCV002046335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054701.1:p.Asn307Asp
CA414400281
NM_013995.2:c.919A>G