Canonical Allele Identifier: PA916000999
Gene: LDLR HGNC NCBI

Linked Data

JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001182727.1:p.Gln686Ter
NM_001195798.2:c.[2055del;2056_2057insT]

NM_001195798.2:c.[2055del;2057A>T]

NM_001195798.2:c.[2055del;2057A>T;2059A=]...

NM_001195798.2:c.[2055del;2057A>T;2059_20...

NM_001195798.2:c.2056C>T