ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099953
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224616
ClinVar RCV Id:
RCV000210237
RCV001201346
RCV001800536
RCV002408910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asn564Ser
CA035639
NM_000527.5:c.1691A>G