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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:
CA1619035194
Gene: POU5F1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31172197_31172199delinsAAG , CM000668.2:g.31172197_31172199delinsAAG
GRCh38
NC_000006.11:g.31139974_31139976delinsAAG , CM000668.1:g.31139974_31139976delinsAAG
GRCh37
NC_000006.10:g.31247953_31247955delinsAAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000441888.7:c.-183-6152_-183-6150delinsCTT
ENSP00000389359.2:n.-183-6152_-183-6150de...
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