ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645376355
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251288
ClinVar RCV Id:
RCV000238148
RCV003477848
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Glu179Lys
CA10584979
NM_000527.5:c.535G>A