Canonical Allele Identifier: PA2826216543
Gene: LDLR HGNC NCBI
ClinVar RCV:
RCV000237211
ClinVar Variation:
251736
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Thr277Ile
CA10585360
NM_001195803.2:c.830C>T