ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829489041
Gene: DMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000596128
RCV001242280
ClinVar Variation:
498588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004000.1:p.Ser349Leu
CA10379980
NM_004009.3:c.1046C>T