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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:
CA2141801094
Gene:
Linked Data
dbSNP Id:
rs1856238844
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501596del , CM000676.2:g.62501596del
GRCh38
NC_000014.8:g.62968314del , CM000676.1:g.62968314del
GRCh37
NC_000014.7:g.62038067del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2445del
XR_943932.2:n.103-2445del
Search 100 bp 5'
Search 100 bp 3'