ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826215096
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161285
ClinVar RCV Id:
RCV000161989
RCV000237459
RCV000590270
RCV002051678
RCV002390312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Asp324Asn
CA023512
NM_001195800.2:c.970G>A