ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826215878
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1509293
ClinVar RCV Id:
RCV002040636
RCV002486679
RCV002458987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Arg646Trp
CA040769
NM_001195800.2:c.1936C>T