ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826217081
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
920419
ClinVar RCV Id:
RCV001179174
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Lys469Glu
CA404089781
NM_001195803.2:c.1405A>G