Allele Registry

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.

Canonical Allele Identifier: PA2826216384

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251639

ClinVar RCV Id: RCV000237417 RCV000775053 RCV002401934 RCV003477853 RCV004017550

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp227Gly	CA031858 NM_001195803.2:c.680A>G