ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916001470
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440563
ClinVar RCV Id:
RCV000508699
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Cys80Trp
CA404076297
NM_001195799.2:c.240C>G