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: PA2826216879

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 920704

ClinVar RCV Id: RCV001179615 RCV002223995 RCV002402537 RCV004006583

ClinVar Variation Id: 1171902

ClinVar RCV Id: RCV001525355 RCV001806219 RCV004008839

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182732.1:p.Asp398Glu	CA034873 NM_001195803.2:c.1194T>A CA404086607 NM_001195803.2:c.1194T>G