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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
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Canonical Allele Identifier:
CA841571744
Gene:
Linked Data
dbSNP Id:
rs1212394925
gnomAD v3:
7-69147064-CAG-C
gnomAD v4:
7-69147064-CAG-C
MyVariant Identifiers:
chr7:g.68612052_68612053del (hg19)
chr7:g.69147065_69147066del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.69147067_69147068del , CM000669.2:g.69147067_69147068del
GRCh38
NC_000007.13:g.68612054_68612055del , CM000669.1:g.68612054_68612055del
GRCh37
NC_000007.12:g.68249990_68249991del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_927647.1:n.88-940_88-939del
Search 100 bp 5'
Search 100 bp 3'