ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826213581
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071521
ClinVar RCV Id:
RCV004016015
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Val549Ile
CA404089750
NM_001195799.2:c.1645G>A