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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:
CA320423807
Gene: RUNX1
HGNC
NCBI
Linked Data
dbSNP Id:
rs927354812
gnomAD v3:
21-35641380-ATCT-A
gnomAD v4:
21-35641380-ATCT-A
MyVariant Identifiers:
chr21:g.37013679_37013681del (hg19)
chr21:g.35641381_35641383del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.35641387_35641389del , CM000683.2:g.35641387_35641389del
GRCh38
NC_000021.8:g.37013685_37013687del , CM000683.1:g.37013685_37013687del
GRCh37
NC_000021.7:g.35935555_35935557del
NCBI36
NG_011402.2:g.348328_348330del , LRG_482:g.348328_348330del
Transcript Alleles
HGVS
Amino-acid change
ENST00000475045.6:c.-532+13437_-532+13439del
ENSP00000477072.1:n.-532+13437_-532+13439...
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