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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:
CA2754892234
Gene: AGXT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240872936dup , CM000664.2:g.240872936dup
GRCh38
NC_000002.11:g.241812353dup , CM000664.1:g.241812353dup
GRCh37
NC_000002.10:g.241461026dup
NCBI36
NG_008005.1:g.9192dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000307503.4:c.525-43dup
MANE Select
ENSP00000302620.3:n.525-43dup
ENST00000307503.3:c.525-43dup
ENSP00000302620.3:n.525-43dup
ENST00000472436.1:n.545-43dup
ENST00000476698.1:n.262-43dup
NM_000030.2:c.525-43dup
NP_000021.1:n.525-43dup
NM_000030.3:c.525-43dup
MANE Select
NP_000021.1:n.525-43dup
Search 100 bp 5'
Search 100 bp 3'