ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829467246
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1442763
ClinVar RCV Id:
RCV001953153
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Tyr1034Cys
CA347217037
NM_003494.4:c.3101A>G