ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826211354
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
998055
ClinVar RCV Id:
RCV001293742
RCV001813822
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Cys68Phe
CA404075526
NM_001195798.2:c.203G>T