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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
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Canonical Allele Identifier:
CA1481405405
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102499600_102499615delinsTATCTATCTTTTGGTA , CM000666.2:g.102499600_102499615delinsTATCTATCTTTTGGTA
GRCh38
NC_000004.11:g.103420757_103420772delinsTATCTATCTTTTGGTA , CM000666.1:g.103420757_103420772delinsTATCTATCTTTTGGTA
GRCh37
NC_000004.10:g.103639789_103639804delinsTATCTATCTTTTGGTA
NCBI36
NG_050628.1:g.3272_3287delinsTATCTATCTTTTGGTA
Transcript Alleles
HGVS
Amino-acid change
XM_011532467.1:c.643+1634_643+1649delinsTACCAAAAGATAGATA
XP_011530769.1:n.643+1634_643+1649delinsT...
NR_136202.1:n.48+2824_48+2839delinsTACCAAAAGATAGATA
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