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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:
CA136823625
Gene: POU5F1
HGNC
NCBI
Linked Data
dbSNP Id:
rs28383834
gnomAD v2:
6-31139962-G-GC
gnomAD v3:
6-31172185-G-GC
gnomAD v4:
6-31172185-G-GC
MyVariant Identifiers:
chr6:g.31139962_31139963insC (hg19)
chr6:g.31172185_31172186insC (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31172186dup , CM000668.2:g.31172186dup
GRCh38
NC_000006.11:g.31139963dup , CM000668.1:g.31139963dup
GRCh37
NC_000006.10:g.31247942dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000441888.7:c.-183-6139dup
ENSP00000389359.2:n.-183-6139dup
Search 100 bp 5'
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