×
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:
CA1548147778
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.56899963_56899965delinsATC , CM000667.2:g.56899963_56899965delinsATC
GRCh38
NC_000005.9:g.56195790_56195792delinsATC , CM000667.1:g.56195790_56195792delinsATC
GRCh37
NC_000005.8:g.56231547_56231549delinsATC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_948346.1:n.83-1669_83-1667delinsGAT
XR_948347.1:n.76+32_76+34delinsGAT
XR_948347.3:n.406+32_406+34delinsGAT
Search 100 bp 5'
Search 100 bp 3'