ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250472
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3706
ClinVar RCV Id:
RCV000003896
RCV001851629
RCV002362557
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp224Asn
CA023744
NM_000527.5:c.670G>A