ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825695255
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290187
ClinVar RCV Id:
RCV000348647
RCV002494891
RCV001833403
RCV001240482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Thr1623Met
CA1707202
NM_001130455.2:c.4868C>T