Canonical Allele Identifier: PA916001876
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251096
ClinVar RCV Id: RCV000237132
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Gln85His
CA10584811
NM_001195803.2:c.255G>T
CA404075634
NM_001195803.2:c.255G>C