×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2384891748
Gene: N6AMT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1987294432
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.28776560_28776562del , CM000683.2:g.28776560_28776562del
GRCh38
NC_000021.8:g.30148882_30148884del , CM000683.1:g.30148882_30148884del
GRCh37
NC_000021.7:g.29070753_29070755del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001754830.1:n.934+45345_934+45347del
XR_002958591.1:n.4507-4422_4507-4420del
Search 100 bp 5'
Search 100 bp 3'