ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825746876
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000153173
RCV001140455
ClinVar Variation:
167016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Ala170Val
CA179983
NM_001130976.2:c.509C>T