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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:
CA1283487430
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.120331869_120331870delinsAG , CM000664.2:g.120331869_120331870delinsAG
GRCh38
NC_000002.11:g.121089445_121089446delinsAG , CM000664.1:g.121089445_121089446delinsAG
GRCh37
NC_000002.10:g.120805915_120805916delinsAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011512307.1:c.141+3063_141+3064delinsAG
XP_011510609.1:n.141+3063_141+3064delinsAG
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