ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825761702
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284471
ClinVar RCV Id:
RCV000265900
RCV001859602
RCV003401247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Val1872Met
CA10604806
NM_001130982.2:c.5614G>A