ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825757182
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000291125
RCV000526675
RCV001085337
RCV003967764
ClinVar Variation:
287175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124452.1:p.Thr1322Lys
CA1706829
NM_001130980.2:c.3965C>A