ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741841619
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2751116
ClinVar RCV Id:
RCV003582852
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Ala521Ser
CA404086586
NM_001195798.2:c.1561G>T