Canonical Allele Identifier: PA916001614
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 250970
ClinVar RCV Id: RCV000238070
ClinVar Variation Id: 250971
ClinVar RCV Id: RCV000237142 RCV001182216 RCV004020945
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gly2Arg
CA085719
NM_001195803.2:c.4G>C
CA10584722
NM_001195803.2:c.4G>A