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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:
CA968894127
Gene:
Linked Data
dbSNP Id:
rs1893387100
gnomAD v3:
15-39281254-ACTGGTGTAG-A
gnomAD v4:
15-39281254-ACTGGTGTAG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.39281261_39281269del , CM000677.2:g.39281261_39281269del
GRCh38
NC_000015.9:g.39573462_39573470del , CM000677.1:g.39573462_39573470del
GRCh37
NC_000015.8:g.37360754_37360762del
NCBI36
Search 100 bp 5'
Search 100 bp 3'