ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825767523
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007060
RCV000176936
RCV000763088
RCV000790688
RCV001229764
ClinVar Variation:
6675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124457.1:p.Arg1064His
CA222152
NM_001130985.2:c.3191G>A