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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:
CA34081500
Gene:
Linked Data
dbSNP Id:
rs1037383744
gnomAD v2:
1-186640599-ACTT-A
gnomAD v3:
1-186671467-ACTT-A
gnomAD v4:
1-186671467-ACTT-A
MyVariant Identifiers:
chr1:g.186640600_186640602del (hg19)
chr1:g.186671468_186671470del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186671471_186671473del , CM000663.2:g.186671471_186671473del
GRCh38
NC_000001.10:g.186640603_186640605del , CM000663.1:g.186640603_186640605del
GRCh37
NC_000001.9:g.184907226_184907228del
NCBI36
NG_028206.2:g.13958_13960del
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