ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057534762
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005159063
ClinVar Variation:
3684221
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Pro791Gln
CA347211150
NM_003494.4:c.2372C>A