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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829374228
Gene: LAMP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379524
ClinVar RCV Id:
RCV000429271
RCV000770585
RCV000864906
RCV002313043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002285.1:p.Arg25Gln
CA10505348
NM_002294.3:c.74G>A