ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001999
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
662549
ClinVar RCV Id:
RCV000820213
RCV001825654
RCV003145205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Ser724Ile
CA10378515
NM_004011.4:c.2171G>T