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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:
CA261374890
Gene:
Linked Data
dbSNP Id:
rs779258598
gnomAD v2:
14-52884406-TAC-T
gnomAD v3:
14-52417688-TAC-T
gnomAD v4:
14-52417688-TAC-T
MyVariant Identifiers:
chr14:g.52884407_52884408del (hg19)
chr14:g.52417689_52417690del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.52417690_52417691del , CM000676.2:g.52417690_52417691del
GRCh38
NC_000014.8:g.52884408_52884409del , CM000676.1:g.52884408_52884409del
GRCh37
NC_000014.7:g.51954158_51954159del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943866.1:n.3013_3014del
Search 100 bp 5'
Search 100 bp 3'