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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:
CA633315098
Gene:
Linked Data
dbSNP Id:
rs1351469608
gnomAD v2:
19-45414280-ATG-A
gnomAD v3:
19-44911023-ATG-A
gnomAD v4:
19-44911023-ATG-A
MyVariant Identifiers:
chr19:g.45414281_45414282del (hg19)
chr19:g.44911024_44911025del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.44911025_44911026del , CM000681.2:g.44911025_44911026del
GRCh38
NC_000019.9:g.45414282_45414283del , CM000681.1:g.45414282_45414283del
GRCh37
NC_000019.8:g.50106122_50106123del
NCBI36
NG_007084.2:g.10244_10245del
NG_012859.1:g.1362_1363del
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