ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573084047
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
507110
ClinVar RCV Id:
RCV000602771
RCV001168122
RCV001829718
RCV002529409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Ser319Leu
CA10380021
NM_004006.3:c.956C>T