ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829496218
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388184
ClinVar RCV Id:
RCV000436857
RCV000530235
RCV001828430
RCV003144261
RCV004539870
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Thr830Ile
CA10379419
NM_004010.3:c.2489C>T