ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826214156
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
927243
ClinVar RCV Id:
RCV001190365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Tyr806Ser
CA404099928
NM_001195799.2:c.2417A>C