ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826214721
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251662
ClinVar RCV Id:
RCV000237564
RCV001192511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Gln198Arg
CA032068
NM_001195800.2:c.593A>G