ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825753363
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381677
ClinVar RCV Id:
RCV000424011
RCV000671182
RCV001861509
RCV003470383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Pro1991Ser
CA16604254
NM_001130978.2:c.5971C>T