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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:
CA784578950
Gene:
Linked Data
dbSNP Id:
rs1473301539
MyVariant Identifiers:
chr4:g.103420758_103420772del (hg19)
chr4:g.102499601_102499615del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102499603_102499617del , CM000666.2:g.102499603_102499617del
GRCh38
NC_000004.11:g.103420760_103420774del , CM000666.1:g.103420760_103420774del
GRCh37
NC_000004.10:g.103639792_103639806del
NCBI36
NG_050628.1:g.3275_3289del
Transcript Alleles
HGVS
Amino-acid change
XM_011532467.1:c.643+1634_643+1648del
XP_011530769.1:n.643+1634_643+1648del
NR_136202.1:n.48+2824_48+2838del
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