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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:
PA2826216574
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161276
ClinVar RCV Id:
RCV000211581
RCV000519267
RCV000775060
RCV002051669
RCV002362782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Thr286Met
CA023439
NM_001195803.2:c.857C>T