ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829505595
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000213994
RCV000470937
RCV001528853
RCV001828075
ClinVar Variation:
228600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004005.2:p.Thr679Ile
CA10377674
NM_004014.3:c.2036C>T