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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:
CA319177478
Gene: N6AMT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs773611122
MyVariant Identifiers:
chr21:g.30148890del (hg19)
chr21:g.28776568del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.28776568del , CM000683.2:g.28776568del
GRCh38
NC_000021.8:g.30148890del , CM000683.1:g.30148890del
GRCh37
NC_000021.7:g.29070761del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001754830.1:n.934+45337del
XR_002958591.1:n.4507-4430del
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