ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825179462
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003581134
ClinVar Variation:
2723765
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asn439Ser
CA404085145
NM_000527.5:c.1316A>G