Canonical Allele Identifier: PA2826216097
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 927471
ClinVar RCV Id: RCV001190779
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Met137Ile
CA404080102
NM_001195803.2:c.411G>A
CA404080105
NM_001195803.2:c.411G>C
CA404080106
NM_001195803.2:c.411G>T