ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825761429
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94331
ClinVar RCV Id:
RCV000080297
RCV000548178
RCV001271548
RCV002222381
RCV003466986
RCV004549503
ClinVar Variation Id:
2418333
ClinVar RCV Id:
RCV003121082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Lys1630Asn
CA222176
NM_001130982.2:c.4890G>T
CA1707167
NM_001130982.2:c.4890G>C