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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:
CA1619035248
Gene: POU5F1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31172333_31172334delinsTG , CM000668.2:g.31172333_31172334delinsTG
GRCh38
NC_000006.11:g.31140110_31140111delinsTG , CM000668.1:g.31140110_31140111delinsTG
GRCh37
NC_000006.10:g.31248089_31248090delinsTG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000441888.7:c.-183-6287_-183-6286delinsCA
ENSP00000389359.2:n.-183-6287_-183-6286delinsCA
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