ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825752545
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452908
ClinVar RCV Id:
RCV000765698
RCV000727399
RCV001485096
RCV001563734
RCV001563735
RCV001272834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124450.1:p.Pro1214Leu
CA1706667
NM_001130978.2:c.3641C>T