ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826211748
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3072636
ClinVar RCV Id:
RCV004013658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Ala394Val
CA032411
NM_001195798.2:c.1181C>T