ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829501840
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197077
ClinVar RCV Id:
RCV000630489
RCV000724575
RCV002345620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004003.2:p.Lys506Glu
CA245012
NM_004012.4:c.1516A>G