ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915974022
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000725593
RCV001081328
RCV001272833
ClinVar Variation:
285123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Ile1240Met
CA1706663
NM_001130982.2:c.3720C>G