×
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:
PA2827785481
Gene: SCN1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381569
ClinVar RCV Id:
RCV000428224
RCV000794021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340887.1:p.Ser912Phe
CA16604035
NM_001353958.2:c.2735C>T