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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:
CA2773087207
Gene: ARG1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.131573153_131573176del , CM000668.2:g.131573153_131573176del
GRCh38
NC_000006.11:g.131894293_131894316del , CM000668.1:g.131894293_131894316del
GRCh37
NC_000006.10:g.131935986_131936009del
NCBI36
NG_007086.2:g.4929_4952del
NG_031860.1:g.60048_60071del
NG_031860.2:g.60048_60071del
Transcript Alleles
HGVS
Amino-acid change
ENST00000672052.1:n.305-3510_305-3487del
ENST00000672233.1:c.77-5958_77-5935del
ENSP00000499826.1:n.77-5958_77-5935del
ENST00000673234.1:c.77-3510_77-3487del
ENSP00000499885.1:n.77-3510_77-3487del
ENST00000368087.7:c.-130_-107del
ENSP00000357066.3:n.-130_-107del
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