ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825753818
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6682
ClinVar RCV Id:
RCV000007069
RCV000594920
RCV003159090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Gly330Trp
CA253918
NM_001130979.2:c.988G>T