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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:
CA267219825
Gene:
Linked Data
dbSNP Id:
rs771986460
gnomAD v3:
14-103551467-CTG-C
gnomAD v4:
14-103551467-CTG-C
MyVariant Identifiers:
chr14:g.104017805_104017806del (hg19)
chr14:g.103551468_103551469del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.103551469_103551470del , CM000676.2:g.103551469_103551470del
GRCh38
NC_000014.8:g.104017806_104017807del , CM000676.1:g.104017806_104017807del
GRCh37
NC_000014.7:g.103087559_103087560del
NCBI36
Search 100 bp 5'
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