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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:
CA615661009
Gene: LINC01147
HGNC
NCBI
Linked Data
dbSNP Id:
rs1173740057
gnomAD v2:
14-88487736-GGA-G
gnomAD v3:
14-88021392-GGA-G
gnomAD v4:
14-88021392-GGA-G
MyVariant Identifiers:
chr14:g.88487737_88487738del (hg19)
chr14:g.88021393_88021394del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.88021393_88021394del , CM000676.2:g.88021393_88021394del
GRCh38
NC_000014.8:g.88487737_88487738del , CM000676.1:g.88487737_88487738del
GRCh37
NC_000014.7:g.87557490_87557491del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110121.1:n.327+2281_327+2282del
Search 100 bp 5'
Search 100 bp 3'