ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826212102
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226304
ClinVar RCV Id:
RCV000211569
RCV000588365
RCV001283999
RCV002426989
RCV003128396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys27Trp
CA041664
NM_001195799.2:c.81C>G