ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825694259
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
336964
ClinVar RCV Id:
RCV000278825
RCV000373211
RCV001140034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Thr1037Ile
CA1706444
NM_001130455.2:c.3110C>T