×
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:
PA2826216880
Gene: LDLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
251902
ClinVar RCV Id:
RCV000238555
RCV003298317
RCV003581628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182732.1:p.Asp398Val
CA10585507
NM_001195803.2:c.1193A>T