ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825180417
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1781021
ClinVar RCV Id:
RCV002412708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Ala612Pro
CA404089866
NM_000527.5:c.1834G>C