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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:
PA2580315623
Gene: LRP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1898010
ClinVar RCV Id:
RCV002579732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004516.2:p.Ile4096Val
CA1952852
NM_004525.3:c.12286A>G