ClinGen Allele Registry
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Canonical Allele Identifier:
CA4555002
Gene: SSPOP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.149776948C>T , CM000669.2:g.149776948C>T
GRCh38
NC_000007.13:g.149474037C>T , CM000669.1:g.149474037C>T
GRCh37
NC_000007.12:g.149104970C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000378016.5:n.247C>T
ENST00000378016.4:c.247C>T
ENSP00000485256.1:p.Arg83Trp
ENST00000486824.3:n.94+420C>T
ENST00000623373.3:n.247C>T
NM_198455.2:c.247C>T
NP_940857.2:p.Arg83Trp
NR_163594.1:n.247C>T
Search 100 bp 5'
Search 100 bp 3'