ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216115
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000161966
RCV000210247
RCV000775049
RCV002051672
RCV002247541
RCV002415633
ClinVar Variation:
161279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Gly142Asp
CA023767
NM_001195803.2:c.425G>A