ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645377994
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251649
ClinVar RCV Id:
RCV000237189
RCV000775054
RCV001699265
RCV002411084
RCV004017551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Glu357Lys
CA10585290
NM_000527.5:c.1069G>A