ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222211
Gene: DYSF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Thr252Met
CA222210
NM_003494.4:c.755C>T