ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825179970
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000850047
ClinVar Variation:
689351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Tyr532Asn
CA404088538
NM_000527.5:c.1594T>A