ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826212770
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2918484
ClinVar RCV Id:
RCV003741092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Glu271Gly
CA404081081
NM_001195799.2:c.812A>G