ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA147748
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003485.1:p.Gly128Glu
NM_003494.4:c.383G>A