ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825754692
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
128947
ClinVar RCV Id:
RCV000116927
RCV000532523
RCV001086595
RCV001826784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124451.1:p.Arg1127His
CA152663
NM_001130979.2:c.3380G>A