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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:
PA645377310
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251482
ClinVar RCV Id:
RCV000237617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys276Trp
CA10585156
NM_000527.5:c.828C>G