ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825208340
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
922750
ClinVar RCV Id:
RCV001182968
RCV002491531
RCV002379705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp25Asn
CA041649
NM_000527.5:c.73G>A