ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645378866
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226359
ClinVar RCV Id:
RCV000211664
RCV001177035
RCV002399777
RCV003477712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Gly516Ser
CA034716
NM_000527.5:c.1546G>A