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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:
CA1226669984
Gene: AGT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.230716385_230716386delinsGA , CM000663.2:g.230716385_230716386delinsGA
GRCh38
NC_000001.10:g.230852131_230852132delinsGA , CM000663.1:g.230852131_230852132delinsGA
GRCh37
NC_000001.9:g.228918754_228918755delinsGA
NCBI36
NG_008836.1:g.3205_3206delinsTC
NG_008836.2:g.3205_3206delinsTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000681269.1:c.-30-5533_-30-5532delinsTC
ENSP00000505985.1:n.-30-5533_-30-5532delinsTC
NM_001382817.3:c.-30-5533_-30-5532delinsTC
NP_001369746.2:n.-30-5533_-30-5532delinsTC
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