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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:
CA574498755
Gene:
Linked Data
dbSNP Id:
rs1202521030
gnomAD v2:
7-50225393-AG-A
gnomAD v3:
7-50185797-AG-A
gnomAD v4:
7-50185797-AG-A
MyVariant Identifiers:
chr7:g.50225394del (hg19)
chr7:g.50185798del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.50185798del , CM000669.2:g.50185798del
GRCh38
NC_000007.13:g.50225394del , CM000669.1:g.50225394del
GRCh37
NC_000007.12:g.50195940del
NCBI36
Search 100 bp 5'
Search 100 bp 3'