ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829490493
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
388184
ClinVar RCV Id:
RCV000436857
RCV000530235
RCV001828430
RCV003144261
RCV004539870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004000.1:p.Thr949Ile
CA10379419
NM_004009.3:c.2846C>T