ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826214060
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2542522
ClinVar RCV Id:
RCV004314244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Pro754Arg
CA404096908
NM_001195799.2:c.2261C>G