ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664366
Gene: LAMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449177
ClinVar RCV Id:
RCV000522587
RCV000801420
RCV002358405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054701.1:p.Glu334Gln
CA10505217
NM_013995.2:c.1000G>C