ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825181287
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2919631
ClinVar RCV Id:
RCV003741114
RCV004005926
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Ile796Val
CA404096915
NM_000527.5:c.2386A>G