ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829467236
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471296
ClinVar RCV Id:
RCV000551403
RCV001272824
RCV003144341
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Pro1029Ala
CA347216998
NM_003494.4:c.3085C>G