ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825766660
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000179859
RCV000984257
RCV001852238
RCV002265663
RCV003468872
ClinVar Variation:
198495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Gly266Glu
CA275400
NM_001130985.2:c.797G>A