Canonical Allele Identifier: PA645510855
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440649
ClinVar RCV Id: RCV000508709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Lys507Asn
CA404086505
NM_000527.5:c.1521G>C
CA404086506
NM_000527.5:c.1521G>T