ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826216541
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2568145
ClinVar RCV Id:
RCV003283511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Phe276Ser
CA404084692
NM_001195803.2:c.827T>C