ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729665
Gene: LAMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
855949
ClinVar RCV Id:
RCV001061307
RCV001772282
RCV003380830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_054701.1:p.Gln174Lys
CA414401957
NM_013995.2:c.520C>A