×
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:
CA1875353067
Gene:
Linked Data
dbSNP Id:
rs1829072946
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.117702837del , CM000671.2:g.117702837del
GRCh38
NC_000009.11:g.120465115del , CM000671.1:g.120465115del
GRCh37
NC_000009.10:g.119504936del
NCBI36
NG_011475.1:g.3656del
NG_011475.2:g.3435del
Search 100 bp 5'
Search 100 bp 3'