ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826212508
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1755384
ClinVar RCV Id:
RCV002369352
RCV003098375
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Ser185Phe
CA404078427
NM_001195799.2:c.554C>T