ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829465735
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288625
ClinVar RCV Id:
RCV000271058
RCV001855211
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Thr74Met
CA1705259
NM_003494.4:c.221C>T