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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
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Canonical Allele Identifier:
CA1307074056
Gene: GAD1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.170814136_170814140delinsAGGTT , CM000664.2:g.170814136_170814140delinsAGGTT
GRCh38
NC_000002.11:g.171670646_171670650delinsAGGTT , CM000664.1:g.171670646_171670650delinsAGGTT
GRCh37
NC_000002.10:g.171378892_171378896delinsAGGTT
NCBI36
NG_021477.1:g.2447_2451delinsAGGTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000454603.5:c.-64+714_-64+718delinsAGGTT
ENSP00000402366.1:n.-64+714_-64+718delinsAGGTT
XM_011510922.1:c.-64+714_-64+718delinsAGGTT
XP_011509224.1:n.-64+714_-64+718delinsAGGTT
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