ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573084008
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497501
ClinVar RCV Id:
RCV000597484
RCV000853037
RCV001080147
RCV001829638
RCV002420567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Pro2695Ser
CA10378140
NM_004006.3:c.8083C>T