ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829506050
Gene: DMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000213994
RCV000470937
RCV001528853
RCV001828075
ClinVar Variation:
228600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004006.1:p.Thr340Ile
CA10377674
NM_004015.3:c.1019C>T