×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826213322
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071618
ClinVar RCV Id:
RCV004016112
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182728.1:p.Ser452Cys
CA404086311
NM_001195799.2:c.1355C>G