ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826215404
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252046
ClinVar RCV Id:
RCV000238082
RCV000775078
RCV003233513
RCV002411092
RCV003993908
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Ala438Thr
CA036744
NM_001195800.2:c.1312G>A