ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826212519
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403633
ClinVar RCV Id:
RCV000454717
RCV002230305
RCV002365581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Glu187_Cys190del
CA16609807
NM_001195799.2:c.560_571del