ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826216778
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251852
ClinVar RCV Id:
RCV000238586
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Ser359Gly
CA10585462
NM_001195803.2:c.1075A>G