ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825748914
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471324
ClinVar RCV Id:
RCV000533199
RCV001834801
RCV001755866
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Arg2030Trp
CA1707654
NM_001130976.2:c.6088C>T