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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:
CA10575662
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.28603922_28609431dup , CM000678.2:g.28603922_28609431dup
GRCh38
NC_000016.9:g.28615243_28620752dup , CM000678.1:g.28615243_28620752dup
GRCh37
NC_000016.8:g.28522744_28528253dup
NCBI36
NG_028128.1:g.19115_24624dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000395607.6:c.*728_*1451+4786dup
ENST00000677940.1:c.138+10632_139-10354dup
ENSP00000503077.1:n.138+10632_139-10354du...
ENST00000679262.1:c.*118+10632_*118+16141dup
ENSP00000502863.1:n.*118+10632_*118+16141...
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