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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:
CA53064863
Gene: LINC01965
HGNC
NCBI
Linked Data
dbSNP Id:
rs759854179
gnomAD v2:
2-104578387-TG-T
gnomAD v3:
2-103961929-TG-T
gnomAD v4:
2-103961929-TG-T
MyVariant Identifiers:
chr2:g.104578388del (hg19)
chr2:g.103961930del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.103961931del , CM000664.2:g.103961931del
GRCh38
NC_000002.11:g.104578389del , CM000664.1:g.104578389del
GRCh37
NC_000002.10:g.103944821del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001739621.1:n.178+87486del
XR_001739623.1:n.178+87486del
Search 100 bp 5'
Search 100 bp 3'