ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825748170
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000266054
RCV002518100
ClinVar Variation:
289774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Val1344Met
CA1706898
NM_001130976.2:c.4030G>A