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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:
PA645379562
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252040
ClinVar RCV Id:
RCV000237380
RCV002519851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp601Val
CA10585621
NM_000527.5:c.1802A>T