ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916000813
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
440669
ClinVar RCV Id:
RCV000508712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Leu646Gln
CA404093042
NM_001195798.2:c.1937T>A