ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA275156
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196175
ClinVar RCV Id:
RCV000176934
RCV000724183
RCV001050002
RCV001804906
RCV003468860
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003485.1:p.Tyr1014Cys
CA275155
NM_003494.4:c.3041A>G