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ClinGen Allele Registry
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Canonical Allele Identifier:
CA1948984070
Community Standard Title: NC_000011.10:g.4094744C>T
Gene: RRM1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.4094744C>T , CM000673.2:g.4094744C>T
GRCh38
NC_000011.9:g.4115974C>T , CM000673.1:g.4115974C>T
GRCh37
NC_000011.8:g.4072550C>T
NCBI36
NG_016277.1:g.244042C>T , LRG_164:g.244042C>T
NG_027992.2:g.5051C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_001033.3:c.-269C>T
NP_001024.1:n.-269C>T
NM_001033.4:c.-269C>T
NP_001024.1:n.-269C>T
NM_001318064.1:c.-382C>T
NP_001304993.1:n.-382C>T
ENST00000532710.5:n.38C>T
XM_011520277.1:c.-382C>T
XP_011518579.1:n.-382C>T
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