ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826216443
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075482
ClinVar RCV Id:
RCV004017000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Glu245Gln
CA404083470
NM_001195803.2:c.733G>C