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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001632
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383204
ClinVar RCV Id:
RCV000432972
RCV000820032
RCV002339020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Asp374Gly
CA10378768
NM_004011.4:c.1121A>G