ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825754425
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000176653
RCV000553449
RCV001267331
ClinVar Variation:
195961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Val922Ile
CA242686
NM_001130979.2:c.2764G>A