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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:
CA919534759
Gene:
Linked Data
dbSNP Id:
rs1595416743
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.38703217del , CM000677.2:g.38703217del
GRCh38
NC_000015.9:g.38995418del , CM000677.1:g.38995418del
GRCh37
NC_000015.8:g.36782710del
NCBI36
Search 100 bp 5'
Search 100 bp 3'