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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:
CA963862791
Gene:
Linked Data
dbSNP Id:
rs1883743320
gnomAD v3:
14-62501605-GA-G
gnomAD v4:
14-62501605-GA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.62501606del , CM000676.2:g.62501606del
GRCh38
NC_000014.8:g.62968324del , CM000676.1:g.62968324del
GRCh37
NC_000014.7:g.62038077del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943932.1:n.116-2435del
XR_943932.2:n.103-2435del
Search 100 bp 5'
Search 100 bp 3'