×
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:
CA150732160
Gene:
Linked Data
dbSNP Id:
rs9397906
gnomAD v2:
6-156492674-G-A
gnomAD v3:
6-156171540-G-A
gnomAD v4:
6-156171540-G-A
MyVariant Identifiers:
chr6:g.156492674G>A (hg19)
chr6:g.156171540G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.156171540G>A , CM000668.2:g.156171540G>A
GRCh38
NC_000006.11:g.156492674G>A , CM000668.1:g.156492674G>A
GRCh37
NC_000006.10:g.156534366G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943146.1:n.193-3046C>T
XR_001744423.1:n.247-3046C>T
Search 100 bp 5'
Search 100 bp 3'