ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829467248
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
336964
ClinVar RCV Id:
RCV000278825
RCV000373211
RCV001140034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Thr1036Ile
CA1706444
NM_003494.4:c.3107C>T