×
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:
PA2580275631
Gene: KCNN4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2433020
ClinVar RCV Id:
RCV003131325
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002241.1:p.Leu280Gln
CA406198762
NM_002250.3:c.839T>A