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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:
PA2826213815
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252176
ClinVar RCV Id:
RCV000238171
RCV002518493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Gly635Arg
CA10585731
NM_001195799.2:c.1903G>C