ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916000762
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252099
ClinVar RCV Id:
RCV000238461
RCV000775079
RCV002509336
RCV003477857
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asn625Thr
CA10585669
NM_001195798.2:c.1874A>C