ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829500634
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1448670
ClinVar RCV Id:
RCV002002305
RCV002269380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Thr1748Ser
CA10377852
NM_004011.4:c.5242A>T