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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:
CA572804743
Gene:
Linked Data
dbSNP Id:
rs1562681676
gnomAD v2:
7-12193432-G-GTCA
gnomAD v3:
7-12153806-G-GTCA
gnomAD v4:
7-12153806-G-GTCA
MyVariant Identifiers:
chr7:g.12193432_12193433insTCA (hg19)
chr7:g.12153806_12153807insTCA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.12153807_12153808insCAT , CM000669.2:g.12153807_12153808insCAT
GRCh38
NC_000007.13:g.12193433_12193434insCAT , CM000669.1:g.12193433_12193434insCAT
GRCh37
NC_000007.12:g.12159958_12159959insCAT
NCBI36
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