ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645375764
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251157
ClinVar RCV Id:
RCV000237657
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Cys109Phe
CA10584857
NM_000527.5:c.326G>T