ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826217439
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000162024
RCV000237126
RCV000776249
RCV001420704
RCV002051671
RCV002453471
ClinVar Variation:
161278
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Arg636Gln
CA023671
NM_001195803.2:c.1907G>A