ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826217142
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1683261
ClinVar RCV Id:
RCV002238580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asp489Gly
CA404092326
NM_001195803.2:c.1466A>G