ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825760172
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000424011
RCV000671182
RCV001861509
RCV003470383
ClinVar Variation:
381677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124453.1:p.Pro2008Ser
CA16604254
NM_001130981.2:c.6022C>T