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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:
CA1939043925
Gene: VAX1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1854077433
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.117131102del , CM000672.2:g.117131102del
GRCh38
NC_000010.10:g.118890613del , CM000672.1:g.118890613del
GRCh37
NC_000010.9:g.118880603del
NCBI36
NG_012317.1:g.12200del
Transcript Alleles
HGVS
Amino-acid change
ENST00000277905.6:c.*1107del
ENSP00000277905.2:n.*1107del
NM_199131.2:c.*1107del
NP_954582.1:n.*1107del
NM_199131.3:c.*1107del
NP_954582.1:n.*1107del
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