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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:
CA1222592038
Gene: HLX-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.220878390_220878392delinsACC , CM000663.2:g.220878390_220878392delinsACC
GRCh38
NC_000001.10:g.221051732_221051734delinsACC , CM000663.1:g.221051732_221051734delinsACC
GRCh37
NC_000001.9:g.219118355_219118357delinsACC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000651706.1:c.843-2804_843-2802delinsACC
ENSP00000499157.1:n.843-2804_843-2802delinsACC
NR_046901.1:n.292+1457_292+1459delinsGGT
XM_011510307.1:c.667_669delinsGGT
XP_011508609.1:p.Gly223=
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