ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825208669
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1386964
ClinVar RCV Id:
RCV001905910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Ser226Asn
CA2573155716
NM_000527.5:c.676_677delinsAA