ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825754587
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471296
ClinVar RCV Id:
RCV000551403
RCV001272824
RCV003144341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Pro1060Ala
CA347216998
NM_001130979.2:c.3178C>G