ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826216170
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161268
ClinVar RCV Id:
RCV000234348
RCV000826170
RCV000775051
RCV002051661
RCV002371991
RCV001843483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Glu161Lys
CA023783
NM_001195803.2:c.481G>A