ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829508483
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000630546
RCV001826763
RCV002504994
RCV003144127
RCV003162512
ClinVar Variation:
94806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004011.3:p.Leu340Ser
CA222513
NM_004020.4:c.1019T>C