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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:
CA2664011653
Gene: AGXT
HGNC
NCBI
Linked Data
gnomAD v4:
2-240877988-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240877989del , CM000664.2:g.240877989del
GRCh38
NC_000002.11:g.241817406del , CM000664.1:g.241817406del
GRCh37
NC_000002.10:g.241466079del
NCBI36
NG_008005.1:g.14245del
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.943-33del
MANE Select
ENSP00000302620.3:n.943-33del
ENST00000307503.3:c.943-33del
ENSP00000302620.3:n.943-33del
ENST00000470255.1:n.721-33del
NM_000030.2:c.943-33del
NP_000021.1:n.943-33del
NM_000030.3:c.943-33del
MANE Select
NP_000021.1:n.943-33del
Search 100 bp 5'
Search 100 bp 3'