ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741841685
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2568140
ClinVar RCV Id:
RCV003297560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Leu642Trp
CA404092960
NM_001195798.2:c.1925T>G