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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:
PA2826217145
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375824
ClinVar RCV Id:
RCV001764352
RCV000417315
RCV002411283
RCV003226290
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Val491Gly
CA16602338
NM_001195803.2:c.1472T>G