ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826216015
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369854
ClinVar RCV Id:
RCV000408769
RCV000776496
RCV000786356
RCV002436228
RCV003401381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asp100Val
CA10654841
NM_001195803.2:c.299A>T