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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:
CA2171253535
Gene:
Linked Data
dbSNP Id:
rs1893387070
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.39281254_39281256del , CM000677.2:g.39281254_39281256del
GRCh38
NC_000015.9:g.39573455_39573457del , CM000677.1:g.39573455_39573457del
GRCh37
NC_000015.8:g.37360747_37360749del
NCBI36
Search 100 bp 5'
Search 100 bp 3'