ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645378330
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
369853
ClinVar RCV Id:
RCV000408823
RCV002523840
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000518.1:p.Tyr419Asp
CA10654850
NM_000527.5:c.1255T>G