ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829492561
Gene: DMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000389716
RCV002502413
RCV002523832
ClinVar Variation:
368238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004000.1:p.Ile2148Thr
CA10378454
NM_004009.3:c.6443T>C