Canonical Allele Identifier: PA645378240
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 431523
ClinVar RCV Id: RCV000497202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Thr404Ser
CA404084697
NM_000527.5:c.1210A>T
CA404084699
NM_000527.5:c.1211C>G