ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580170858
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1789783
ClinVar RCV Id:
RCV002448238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Gly779Ala
CA404096713
NM_001195798.2:c.2336G>C