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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:
CA1939043924
Gene: VAX1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.117131101_117131102delinsAC , CM000672.2:g.117131101_117131102delinsAC
GRCh38
NC_000010.10:g.118890612_118890613delinsAC , CM000672.1:g.118890612_118890613delinsAC
GRCh37
NC_000010.9:g.118880602_118880603delinsAC
NCBI36
NG_012317.1:g.12200_12201delinsGT
Transcript Alleles
HGVS
Amino-acid change
ENST00000277905.6:c.*1107_*1108delinsGT
ENSP00000277905.2:n.*1107_*1108delinsGT
NM_199131.2:c.*1107_*1108delinsGT
NP_954582.1:n.*1107_*1108delinsGT
NM_199131.3:c.*1107_*1108delinsGT
NP_954582.1:n.*1107_*1108delinsGT
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