ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826211490
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251170
ClinVar RCV Id:
RCV000237310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp118_Gly119delinsGlu
CA10584869
NM_001195798.2:c.354_356del