ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826214811
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440630
ClinVar RCV Id:
RCV000508828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Gly228Asp
CA404084653
NM_001195800.2:c.683G>A