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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:
CA614642940
Gene:
Linked Data
dbSNP Id:
rs1279198457
gnomAD v2:
14-62968437-GTATAGGT-G
gnomAD v3:
14-62501719-GTATAGGT-G
gnomAD v4:
14-62501719-GTATAGGT-G
MyVariant Identifiers:
chr14:g.62968438_62968444del (hg19)
chr14:g.62501720_62501726del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501723_62501729del , CM000676.2:g.62501723_62501729del
GRCh38
NC_000014.8:g.62968441_62968447del , CM000676.1:g.62968441_62968447del
GRCh37
NC_000014.7:g.62038194_62038200del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2318_116-2312del
XR_943932.2:n.103-2318_103-2312del
Search 100 bp 5'
Search 100 bp 3'