ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000349
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183120
ClinVar RCV Id:
RCV000161994
RCV000238217
RCV000775072
RCV004017445
RCV002399589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Pro526Ser
CA023533
NM_001195798.2:c.1576C>T