ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826216873
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430781
ClinVar RCV Id:
RCV000495889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Val397del
CA645373235
NM_001195803.2:c.1190_1192del