ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825753749
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198495
ClinVar RCV Id:
RCV000179859
RCV000984257
RCV001852238
RCV002265663
RCV003468872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Gly265Glu
CA275400
NM_001130979.2:c.794G>A