ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222282
Gene: DMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001043284
RCV001703995
RCV003162511
RCV004737189
ClinVar Variation:
94444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.1:p.Thr3548Ile
CA222280
NM_004006.2:c.10643C>T