ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001426
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226319
ClinVar RCV Id:
RCV000211658
RCV000521830
RCV000820331
RCV002444847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys68Tyr
CA043125
NM_001195799.2:c.203G>A