ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913194939
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629411
ClinVar RCV Id:
RCV000774117
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Thr67Ile
CA404075519
NM_000527.5:c.200C>T