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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:
CA2284269316
Gene:
Linked Data
dbSNP Id:
rs1969408879
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.10382884_10382897del , CM000680.2:g.10382884_10382897del
GRCh38
NC_000018.9:g.10382881_10382894del , CM000680.1:g.10382881_10382894del
GRCh37
NC_000018.8:g.10372881_10372894del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_935143.1:n.919+1531_919+1544del
Search 100 bp 5'
Search 100 bp 3'