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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:
CA2754891926
Gene: AGXT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240869331dup , CM000664.2:g.240869331dup
GRCh38
NC_000002.11:g.241808748dup , CM000664.1:g.241808748dup
GRCh37
NC_000002.10:g.241457421dup
NCBI36
NG_008005.1:g.5587dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.327dup
MANE Select
ENSP00000302620.3:p.Gln110AlafsTer?
ENST00000307503.3:c.327dup
ENSP00000302620.3:p.Gln110AlafsTer?
ENST00000472436.1:n.347dup
NM_000030.2:c.327dup
NP_000021.1:p.Gln110AlafsTer?
XR_924060.1:n.405+906dup
NM_000030.3:c.327dup
MANE Select
NP_000021.1:p.Gln110AlafsTer?
Search 100 bp 5'
Search 100 bp 3'