ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825072994
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2047955
ClinVar RCV Id:
RCV002918433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000100.3:p.Ser1657Cys
CA412671839
NM_000109.4:c.4970C>G