ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826217224
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Pro522Leu
CA10585689
NM_001195803.2:c.1565C>T