ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915973467
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538623
ClinVar RCV Id:
RCV000647986
RCV000765696
RCV001662702
RCV001835043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Tyr554His
CA1705873
NM_001130982.2:c.1660T>C