ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829465779
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000647984
RCV001253301
ClinVar Variation:
538621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Asn102Ser
CA1705307
NM_003494.4:c.305A>G