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ClinGen Allele Registry
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Canonical Allele Identifier:
CA199553
Community Standard Title: NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)
Gene: SIK1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.43417622G>A , CM000683.2:g.43417622G>A
GRCh38
NG_052009.1:g.14511C>T
Transcript Alleles
HGVS
Amino-acid Change
NM_173354.5:c.1897C>T
MANE Select
NP_775490.2:p.Gln633Ter
ENST00000270162.8:c.1897C>T
MANE Select
ENSP00000270162.6:p.Gln633Ter
NM_173354.3:c.1897C>T
NP_775490.2:p.Gln633Ter
NM_173354.4:c.1897C>T
NP_775490.2:p.Gln633Ter
ENST00000270162.6:c.1897C>T
ENSP00000270162.6:p.Gln633Ter
XM_011529474.1:c.1750C>T
XP_011527776.1:p.Gln584Ter
XM_011529474.2:c.1750C>T
XP_011527776.1:p.Gln584Ter
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