×
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:
CA537851344
Gene:
Linked Data
dbSNP Id:
rs1206211554
gnomAD v2:
2-174326854-TGCTTGAG-T
gnomAD v3:
2-173462126-TGCTTGAG-T
gnomAD v4:
2-173462126-TGCTTGAG-T
MyVariant Identifiers:
chr2:g.174326855_174326861del (hg19)
chr2:g.173462127_173462133del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.173462128_173462134del , CM000664.2:g.173462128_173462134del
GRCh38
NC_000002.11:g.174326856_174326862del , CM000664.1:g.174326856_174326862del
GRCh37
NC_000002.10:g.174035102_174035108del
NCBI36
Search 100 bp 5'
Search 100 bp 3'