ClinGen Allele Registry
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Canonical Allele Identifier:
CA918570308
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1588637228
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255945del , CM000671.2:g.133255945del
GRCh38
NC_000009.11:g.136131332del , CM000671.1:g.136131332del
GRCh37
NC_000009.10:g.135121153del
NCBI36
NG_006669.1:g.21725del
NG_006669.2:g.24273del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.817del
ENST00000647353.1:n.54-4791del
ENST00000679909.1:c.28+19219del
ENSP00000506089.1:n.28+19219del
ENST00000453660.3:n.799del
ENST00000538324.2:c.785del
ENSP00000483018.1:p.Phe262SerfsTer26
ENST00000611156.4:c.785del
ENSP00000483265.1:p.Phe262SerfsTer26
NM_020469.2:c.788del
NP_065202.2:p.Phe263SerfsTer26
NM_020469.3:c.788del
NP_065202.2:p.Phe263SerfsTer26
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