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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:
CA784578973
Gene:
Linked Data
dbSNP Id:
rs1358137129
MyVariant Identifiers:
chr4:g.103420805_103420806del (hg19)
chr4:g.102499648_102499649del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.102499650_102499651del , CM000666.2:g.102499650_102499651del
GRCh38
NC_000004.11:g.103420807_103420808del , CM000666.1:g.103420807_103420808del
GRCh37
NC_000004.10:g.103639839_103639840del
NCBI36
NG_050628.1:g.3322_3323del
Transcript Alleles
HGVS
Amino-acid change
XM_011532467.1:c.643+1600_643+1601del
XP_011530769.1:n.643+1600_643+1601del
NR_136202.1:n.48+2790_48+2791del
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