ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825762637
Gene: DYSF
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000288710
RCV000311911
RCV000383412
RCV001139894
ClinVar Variation:
290745
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124455.1:p.Gly681Val
CA1706038
NM_001130983.2:c.2042G>T