Canonical Allele Identifier: CA2769769832
Gene: GMDS-DT HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2355587G>T , CM000668.2:g.2355587G>T GRCh38
NC_000006.11:g.2355821G>T , CM000668.1:g.2355821G>T GRCh37
NC_000006.10:g.2300820G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_046229.1:n.402+26255G>T
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