ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825754957
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000408314
RCV000802767
RCV001804995
RCV003469216
ClinVar Variation:
280068
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Arg1373Trp
CA1706889
NM_001130979.2:c.4117C>T