ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826217026
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252007
ClinVar RCV Id:
RCV000238440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asp452Ala
CA10585590
NM_001195803.2:c.1355A>C