ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825180851
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3074471
ClinVar RCV Id:
RCV004014005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Asn688Ser
CA404093739
NM_000527.5:c.2063A>G