ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829467439
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000398537
RCV002518140
ClinVar Variation:
290506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Thr1141Met
CA1706576
NM_003494.4:c.3422C>T