ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829496031
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000615589
RCV000630620
RCV001168042
RCV002433587
ClinVar Variation:
94524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Lys748Thr
CA222336
NM_004010.3:c.2243A>C