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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:
CA1316291463
Gene: STAT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1695548303
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.191015697_191015699del , CM000664.2:g.191015697_191015699del
GRCh38
NC_000002.11:g.191880423_191880425del , CM000664.1:g.191880423_191880425del
GRCh37
NC_000002.10:g.191588668_191588670del
NCBI36
NG_008294.1:g.3554_3556del , LRG_111:g.3554_3556del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000432058.1:c.-155-2019_-155-2017del
ENSP00000416019.1:n.-155-2019_-155-2017del
ENST00000454414.5:c.-2+4503_-2+4505del
ENSP00000411398.1:n.-2+4503_-2+4505del
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