ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825750423
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2152669
ClinVar RCV Id:
RCV003075109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Ser1339Phe
CA347228496
NM_001130977.2:c.4016C>T