ClinGen Allele Registry
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Canonical Allele Identifier:
PA915973784
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000380360
RCV001246606
RCV001833413
RCV002480056
ClinVar Variation:
290702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Pro966Leu
CA1706296
NM_001130982.2:c.2897C>T