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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:
CA834639085
Gene:
Linked Data
dbSNP Id:
rs1385804008
gnomAD v3:
7-145195049-C-CT
gnomAD v4:
7-145195049-C-CT
MyVariant Identifiers:
chr7:g.144892142_144892143insT (hg19)
chr7:g.145195049_145195050insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.145195050dup , CM000669.2:g.145195050dup
GRCh38
NC_000007.13:g.144892143dup , CM000669.1:g.144892143dup
GRCh37
NC_000007.12:g.144523076dup
NCBI36
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