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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:
CA746624447
Gene:
Linked Data
dbSNP Id:
rs1347665679
MyVariant Identifiers:
chr20:g.6767227_6767233del (hg19)
chr20:g.6786580_6786586del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.6786581_6786587del , CM000682.2:g.6786581_6786587del
GRCh38
NC_000020.10:g.6767228_6767234del , CM000682.1:g.6767228_6767234del
GRCh37
NC_000020.9:g.6715228_6715234del
NCBI36
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Search 100 bp 3'