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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:
CA1445072907
Gene: SOD3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1664585643
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.24795076_24795079del , CM000666.2:g.24795076_24795079del
GRCh38
NC_000004.11:g.24796698_24796701del , CM000666.1:g.24796698_24796701del
GRCh37
NC_000004.10:g.24405796_24405799del
NCBI36
NG_012213.1:g.4614_4617del
Transcript Alleles
HGVS
Amino-acid change
ENST00000598411.1:c.-16-4430_-16-4427del
ENSP00000472134.1:n.-16-4430_-16-4427del
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