ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825753475
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1444196
ClinVar RCV Id:
RCV001981714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Met2094Val
CA347227869
NM_001130978.2:c.6280A>G