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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:
CA966745605
Gene: AMN
HGNC
NCBI
Linked Data
dbSNP Id:
rs1891078467
gnomAD v3:
14-102922607-C-CT
gnomAD v4:
14-102922607-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.102922608dup , CM000676.2:g.102922608dup
GRCh38
NC_000014.8:g.103388945dup , CM000676.1:g.103388945dup
GRCh37
NC_000014.7:g.102458698dup
NCBI36
NG_008276.2:g.4953dup , LRG_642:g.4953dup
Transcript Alleles
HGVS
Amino-acid change
XM_011537202.1:c.-262dup
XP_011535504.1:n.-262dup
XM_011537202.3:c.-262dup
XP_011535504.1:n.-262dup
XM_024449714.1:c.16dup
XP_024305482.1:p.Trp6LeufsTer?
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