ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916001955
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440555
ClinVar RCV Id:
RCV000508725
RCV002431468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asp90Ala
CA404075695
NM_001195803.2:c.269A>C