ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216701
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440637
ClinVar RCV Id:
RCV000508799
RCV000775067
RCV002223855
RCV002383989
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Leu329Pro
CA305300092
NM_001195803.2:c.986T>C