ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139685266
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
919899
ClinVar RCV Id:
RCV001178323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Ile522Val
CA034793
NM_001195798.2:c.1564A>G