ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825747620
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_001124448.1:p.Val877Ile
CA242686
NM_001130976.2:c.2629G>A