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: PA916001563

Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251204

ClinVar RCV Id: RCV000237376 RCV000775037 RCV003148692

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001182728.1:p.Cys93Phe	CA10584903 NM_001195799.2:c.278G>T