ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915999893
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251756
ClinVar RCV Id:
RCV000237429
RCV001238043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Tyr419His
CA10585378
NM_001195798.2:c.1255T>C