×
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:
PA225041
Gene: PSEN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
98038
ClinVar RCV Id:
RCV000084322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000012.1:p.Leu166Arg
CA225040
NM_000021.3:c.497T>G