ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195418
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629370
ClinVar RCV Id:
RCV000774072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Thr742Ala
CA404095155
NM_000527.5:c.2224A>G