ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825767720
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_001124457.1:p.Pro1232Leu
CA1706667
NM_001130985.2:c.3695C>T