ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001695
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000620543
RCV001244304
RCV002498994
ClinVar Variation:
518509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Ile416Thr
CA10378736
NM_004011.4:c.1247T>C