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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:
CA2626674731
Gene: AMN
HGNC
NCBI
Linked Data
gnomAD v4:
14-102922614-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.102922614_102922615insT , CM000676.2:g.102922614_102922615insT
GRCh38
NC_000014.8:g.103388951_103388952insT , CM000676.1:g.103388951_103388952insT
GRCh37
NC_000014.7:g.102458704_102458705insT
NCBI36
NG_008276.2:g.4959_4960insT , LRG_642:g.4959_4960insT
Transcript Alleles
HGVS
Amino-acid change
XM_011537202.1:c.-256_-255insT
XP_011535504.1:n.-256_-255insT
XM_011537202.3:c.-256_-255insT
XP_011535504.1:n.-256_-255insT
XM_024449714.1:c.22_23insT
XP_024305482.1:p.Pro8LeufsTer?
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