Canonical Allele Identifier: PA645378287
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251746
ClinVar RCV Id: RCV000237586
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Met412Ile
CA10585370
NM_000527.5:c.1236G>A
CA404084741
NM_000527.5:c.1236G>C
CA404084742
NM_000527.5:c.1236G>T