ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825749962
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000367959
RCV000403556
RCV000725533
RCV001079396
RCV001272822
RCV001449649
RCV001810433
RCV002085001
RCV004552986
ClinVar Variation:
196022
1532369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Met954Leu
CA242772
NM_001130977.2:c.2860A>T
CA1706338
NM_001130977.2:c.2860A>C
