ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645380596
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431545
ClinVar RCV Id:
RCV000497031
RCV001856995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Ala771Thr
CA404095882
NM_000527.5:c.2311G>A