×
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:
PA2825770493
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290354
ClinVar RCV Id:
RCV000328882
RCV000557258
RCV001833407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Thr1705Pro
CA1707307
NM_001130986.2:c.5113A>C