ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826215920
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
801199
ClinVar RCV Id:
RCV000985767
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Ile670Val
CA404099612
NM_001195800.2:c.2008A>G