ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825180157
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1778448
ClinVar RCV Id:
RCV002398797
RCV003418510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asp569Gly
CA404089612
NM_000527.5:c.1706A>G