ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825769108
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000592160
RCV000807941
RCV001276724
ClinVar Variation:
500618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Ser424Thr
CA1705707
NM_001130986.2:c.1271G>C