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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:
CA1697889778
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.30897637_30897642delinsACCGTG , CM000669.2:g.30897637_30897642delinsACCGTG
GRCh38
NC_000007.13:g.30937252_30937257delinsACCGTG , CM000669.1:g.30937252_30937257delinsACCGTG
GRCh37
NC_000007.12:g.30903777_30903782delinsACCGTG
NCBI36
NG_007475.2:g.49244_49249delinsACCGTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000509504.2:c.622-14356_622-14351delinsACCGTG
Search 100 bp 5'
Search 100 bp 3'