ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826214825
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440632
ClinVar RCV Id:
RCV000508741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Ala231Ser
CA404084667
NM_001195800.2:c.691G>T