ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580164529
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1705273
ClinVar RCV Id:
RCV002283590
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp433Val
CA404085025
NM_001195798.2:c.1298A>T