ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645477696
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
336969
ClinVar RCV Id:
RCV000291639
RCV000419423
RCV001272842
RCV000346595
RCV001753802
RCV001080538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124459.1:p.Ile1343Val
CA1706842
NM_001130987.2:c.4027A>G