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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
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Canonical Allele Identifier:
CA1445072905
Gene: SOD3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.24795073_24795077delinsCAGAT , CM000666.2:g.24795073_24795077delinsCAGAT
GRCh38
NC_000004.11:g.24796695_24796699delinsCAGAT , CM000666.1:g.24796695_24796699delinsCAGAT
GRCh37
NC_000004.10:g.24405793_24405797delinsCAGAT
NCBI36
NG_012213.1:g.4611_4615delinsCAGAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000598411.1:c.-16-4433_-16-4429delinsCAGAT
ENSP00000472134.1:n.-16-4433_-16-4429deli...
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