ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825694521
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281301
ClinVar RCV Id:
RCV000382528
RCV000648004
RCV001272831
RCV003243035
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Asp1164Asn
CA1706621
NM_001130455.2:c.3490G>A