ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139718756
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195493
ClinVar RCV Id:
RCV000685504
RCV000724731
RCV000223116
RCV000620846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Thr847Ala
CA241939
NM_004006.3:c.2539A>G