ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826215817
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
918645
ClinVar RCV Id:
RCV001176372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Pro616Ser
CA404096782
NM_001195800.2:c.1846C>T