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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:
CA647781096
Gene: AGXT
HGNC
NCBI
Linked Data
COSMIC:
COSN18745432
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240877885dup , CM000664.2:g.240877885dup
GRCh38
NC_000002.11:g.241817302dup , CM000664.1:g.241817302dup
GRCh37
NC_000002.10:g.241465975dup
NCBI36
NG_008005.1:g.14141dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.943-137dup
MANE Select
ENSP00000302620.3:n.943-137dup
ENST00000307503.3:c.943-137dup
ENSP00000302620.3:n.943-137dup
ENST00000470255.1:n.721-137dup
NM_000030.2:c.943-137dup
NP_000021.1:n.943-137dup
NM_000030.3:c.943-137dup
MANE Select
NP_000021.1:n.943-137dup
Search 100 bp 5'
Search 100 bp 3'