ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829506316
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000624887
RCV000764876
RCV000864788
RCV001086344
RCV002448913
ClinVar Variation:
520520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004007.1:p.Ala50Ser
CA10377828
NM_004016.3:c.148G>T