ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825694866
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000494287
RCV000672486
RCV001085319
RCV001449591
ClinVar Variation:
429430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Pro1401Arg
CA1706944
NM_001130455.2:c.4202C>G