ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211602
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161274
ClinVar RCV Id:
RCV000218676
RCV000238033
RCV000162022
RCV000771314
RCV002381456
RCV002051667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp342Asn
CA023404
NM_000527.5:c.1024G>A