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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:
CA158203020
Gene:
Linked Data
dbSNP Id:
rs370335364
gnomAD v2:
7-50473155-CT-C
gnomAD v3:
7-50405457-CT-C
gnomAD v4:
7-50405457-CT-C
MyVariant Identifiers:
chr7:g.50473156del (hg19)
chr7:g.50405458del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.50405458del , CM000669.2:g.50405458del
GRCh38
NC_000007.13:g.50473156del , CM000669.1:g.50473156del
GRCh37
NC_000007.12:g.50440650del
NCBI36
NG_034231.1:g.106376del
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