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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:
PA2826215461
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252096
ClinVar RCV Id:
RCV000238541
RCV000426889
RCV000771171
RCV002411101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Ile455Val
CA037254
NM_001195800.2:c.1363A>G