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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:
CA2577302757
Gene: AGXT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.240877981del , CM000664.2:g.240877981del
GRCh38
NC_000002.11:g.241817398del , CM000664.1:g.241817398del
GRCh37
NC_000002.10:g.241466071del
NCBI36
NG_008005.1:g.14237del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000307503.4:c.943-41del
MANE Select
ENSP00000302620.3:n.943-41del
ENST00000307503.3:c.943-41del
ENSP00000302620.3:n.943-41del
ENST00000470255.1:n.721-41del
NM_000030.2:c.943-41del
NP_000021.1:n.943-41del
NM_000030.3:c.943-41del
MANE Select
NP_000021.1:n.943-41del
Search 100 bp 5'
Search 100 bp 3'