ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216222
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000003880
RCV000791377
RCV000826215
RCV000985772
RCV002051612
RCV002371758
ClinVar Variation:
3692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asp177Asn
CA023792
NM_001195803.2:c.529G>A