ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826215671
Gene: LDLR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182729.1:p.Met534Ile
CA038604
NM_001195800.2:c.1602G>A
CA038621
NM_001195800.2:c.1602G>C
CA404093934
NM_001195800.2:c.1602G>T