ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826211370
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161289
ClinVar RCV Id:
RCV000211670
RCV001181333
RCV001354269
RCV002051682
RCV003162606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Arg78Cys
CA023658
NM_001195798.2:c.232C>T