ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829468244
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501558
ClinVar RCV Id:
RCV000594913
RCV000797230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Ala1572Thr
CA1707154
NM_003494.4:c.4714G>A