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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:
CA1697903764
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.30911432_30911435delinsGCCT , CM000669.2:g.30911432_30911435delinsGCCT
GRCh38
NC_000007.13:g.30951047_30951050delinsGCCT , CM000669.1:g.30951047_30951050delinsGCCT
GRCh37
NC_000007.12:g.30917572_30917575delinsGCCT
NCBI36
NG_007475.2:g.63039_63042delinsGCCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000509504.2:c.622-561_622-558delinsGCCT
Search 100 bp 5'
Search 100 bp 3'