×
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:
PA2580283447
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1731785
ClinVar RCV Id:
RCV002337511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Thr1159Asn
CA412663315
NM_004006.3:c.3476C>A