ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826211526
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1327845
ClinVar RCV Id:
RCV001794787
RCV002359257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Val127Ile
CA404076322
NM_001195798.2:c.379G>A