ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825749124
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501816
ClinVar RCV Id:
RCV000593695
RCV000818446
RCV001276719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Glu157Lys
CA1705382
NM_001130977.2:c.469G>A