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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:
CA2664755704
Gene: VENTXP7
HGNC
NCBI
Linked Data
gnomAD v4:
3-21405745-CT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.21405746del , CM000665.2:g.21405746del
GRCh38
NC_000003.11:g.21447238del , CM000665.1:g.21447238del
GRCh37
NC_000003.10:g.21422242del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000475503.1:n.10del
NR_002311.1:n.21del
Search 100 bp 5'
Search 100 bp 3'