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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:
CA1320996786
Gene: CASP8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.201287842_201287845delinsTTTG , CM000664.2:g.201287842_201287845delinsTTTG
GRCh38
NC_000002.11:g.202152565_202152568delinsTTTG , CM000664.1:g.202152565_202152568delinsTTTG
GRCh37
NC_000002.10:g.201860810_201860813delinsTTTG
NCBI36
NG_007497.1:g.59385_59388delinsTTTG , LRG_34:g.59385_59388delinsTTTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000696069.1:c.1259+2525_1259+2528delinsTTTG
ENSP00000512371.1:n.1259+2525_1259+2528delinsTTTG
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