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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:
CA577729005
Gene:
Linked Data
dbSNP Id:
rs1399745180
gnomAD v2:
7-128701419-GC-G
gnomAD v3:
7-129061365-GC-G
gnomAD v4:
7-129061365-GC-G
MyVariant Identifiers:
chr7:g.128701420del (hg19)
chr7:g.129061366del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.129061368del , CM000669.2:g.129061368del
GRCh38
NC_000007.13:g.128701422del , CM000669.1:g.128701422del
GRCh37
NC_000007.12:g.128488658del
NCBI36
Search 100 bp 5'
Search 100 bp 3'