ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826213500
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1341581
ClinVar RCV Id:
RCV001837077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Asn523Thr
CA404089432
NM_001195799.2:c.1568A>C