ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825761447
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000348647
RCV001240482
RCV001833403
RCV002494891
ClinVar Variation:
290187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124454.1:p.Thr1654Met
CA1707202
NM_001130982.2:c.4961C>T