ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826213383
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251897
ClinVar RCV Id:
RCV000237738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Arg479Gly
CA10585502
NM_001195799.2:c.1435A>G