ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645510835
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438323
ClinVar RCV Id:
RCV000505209
RCV002323869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys377Phe
CA404083621
NM_000527.5:c.1130G>T