ClinGen Allele Registry
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Canonical Allele Identifier:
CA2720453788
Gene: ABO
HGNC
NCBI
Linked Data - NCBI & NCI
dbSNP:
56392308
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255672dup , CM000671.2:g.133255672dup
GRCh38
NC_000009.11:g.136131059dup , CM000671.1:g.136131059dup
GRCh37
NC_000009.10:g.135120880dup
NCBI36
NG_006669.1:g.21998dup
NG_006669.2:g.24546dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1090dup
ENST00000647353.1:n.54-4518dup
ENST00000679909.1:c.28+19492dup
ENSP00000506089.1:n.28+19492dup
ENST00000453660.3:n.1072dup
ENST00000538324.2:c.1054dup
ENST00000611156.4:c.1058dup
ENSP00000483265.1:p.Ter354ValextTer?
NM_020469.2:c.1061dup
NP_065202.2:p.Ter355ValextTer?
NM_020469.3:c.1061dup
NP_065202.2:p.Ter355ValextTer?
Search 100 bp 5'
Search 100 bp 3'