ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829508706
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000247702
RCV000792624
RCV001165646
RCV001828141
RCV003343731
ClinVar Variation:
259218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004011.3:p.Glu516Lys
CA10377964
NM_004020.4:c.1546G>A