ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499241772
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1180495
ClinVar RCV Id:
RCV001537876
RCV001873808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Ile161Asn
CA043692
NM_001195798.2:c.482T>A