ClinGen Allele Registry
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Canonical Allele Identifier:
CA2954284583
Gene: ABO
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256166dup , CM000671.2:g.133256166dup
GRCh38
NC_000009.11:g.136131553dup , CM000671.1:g.136131553dup
GRCh37
NC_000009.10:g.135121374dup
NCBI36
NG_006669.1:g.21502dup
NG_006669.2:g.24050dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.594dup
ENST00000647353.1:n.54-5014dup
ENST00000651471.1:n.520dup
ENST00000679909.1:c.28+18996dup
ENSP00000506089.1:n.28+18996dup
ENST00000453660.3:n.576dup
ENST00000538324.2:c.562dup
ENSP00000483018.1:p.Met188AsnfsTer6
ENST00000611156.4:c.562dup
ENSP00000483265.1:p.Met188AsnfsTer6
NM_020469.2:c.565dup
NP_065202.2:p.Met189AsnfsTer6
NM_020469.3:c.565dup
NP_065202.2:p.Met189AsnfsTer6
Search 100 bp 5'
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