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ClinGen Allele Registry
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Canonical Allele Identifier:
CA327916723
Community Standard Title: NC_000023.11:g.38352591C>A
Gene: OTC
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.38352591C>A , CM000685.2:g.38352591C>A
GRCh38
NC_000023.10:g.38211844C>A , CM000685.1:g.38211844C>A
GRCh37
NC_000023.9:g.38096788C>A
NCBI36
NG_008471.1:g.5109C>A
Transcript Alleles
HGVS
Amino-acid Change
NM_000531.5:c.-106C>A
NP_000522.3:n.-106C>A
ENST00000039007.4:c.-106C>A
ENSP00000039007.4:n.-106C>A
ENST00000465127.1:c.172-313530C>A
ENSP00000417050.1:n.172-313530C>A
ENST00000643344.1:c.-106C>A
ENSP00000496606.1:n.-106C>A
XM_017029556.1:c.-106C>A
XP_016885045.1:n.-106C>A
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