ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499265595
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1167778
ClinVar RCV Id:
RCV001517414
RCV001832699
RCV003222331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004014.2:p.Ala927Val
CA10377684
NM_004023.3:c.2780C>T