×
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:
PA2827923648
Gene: SCN5A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2005605
ClinVar RCV Id:
RCV003658202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341630.1:p.Ile1654Asn
CA352142733
NM_001354701.2:c.4961T>A