ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829510239
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228600
ClinVar RCV Id:
RCV000213994
RCV000470937
RCV001528853
RCV001828075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004012.2:p.Thr948Ile
CA10377674
NM_004021.3:c.2843C>T