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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:
CA1937131875
Gene: VTI1A
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.112948763_112948767delinsGCTTT , CM000672.2:g.112948763_112948767delinsGCTTT
GRCh38
NC_000010.10:g.114708522_114708526delinsGCTTT , CM000672.1:g.114708522_114708526delinsGCTTT
GRCh37
NC_000010.9:g.114698512_114698516delinsGCTTT
NCBI36
NG_012631.1:g.3514_3518delinsGCTTT
Transcript Alleles
HGVS
Amino-acid change
XR_002956958.1:n.4799_4803delinsGCTTT
Search 100 bp 5'
Search 100 bp 3'