ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826214743
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251673
ClinVar RCV Id:
RCV000237895
RCV000791447
RCV002243924
RCV002436075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Gly205Asp
CA10585312
NM_001195800.2:c.614G>A