ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826216221
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251517
ClinVar RCV Id:
RCV000237933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asp177Tyr
CA10585188
NM_001195803.2:c.529G>T