ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829500915
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1167778
ClinVar RCV Id:
RCV001517414
RCV001832699
RCV003222331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Ala2046Val
CA10377684
NM_004011.4:c.6137C>T