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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:
PA645377992
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431519
ClinVar RCV Id:
RCV000497231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Glu357Gln
CA404083133
NM_000527.5:c.1069G>C