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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:
CA1937131876
Gene: VTI1A
HGNC
NCBI
Linked Data
dbSNP Id:
rs2030354255
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.112948768_112948771del , CM000672.2:g.112948768_112948771del
GRCh38
NC_000010.10:g.114708527_114708530del , CM000672.1:g.114708527_114708530del
GRCh37
NC_000010.9:g.114698517_114698520del
NCBI36
NG_012631.1:g.3519_3522del
Transcript Alleles
HGVS
Amino-acid change
XR_002956958.1:n.4804_4807del
Search 100 bp 5'
Search 100 bp 3'