ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825754110
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000598052
RCV000648023
RCV001274446
RCV001526744
ClinVar Variation:
498346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Arg613Trp
CA1705929
NM_001130979.2:c.1837C>T