ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825750397
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282423
ClinVar RCV Id:
RCV000340111
RCV001086001
RCV001820813
RCV001835749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Ala1314Val
CA1706844
NM_001130977.2:c.3941C>T