ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2467802734
Gene:
Linked Data
dbSNP Id:
rs188370909
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.641038G>A , CM000686.2:g.641038G>A
GRCh38
NC_000024.9:g.551773G>A , CM000686.1:g.551773G>A
GRCh37
NC_000024.8:g.521773G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000711141.1:c.584G>A
ENSP00000518639.1:p.Arg195Gln
ENST00000711142.1:c.584G>A
ENSP00000518640.1:p.Arg195Gln
ENST00000711143.1:c.584G>A
ENSP00000518641.1:p.Arg195Gln
ENST00000711145.1:c.584G>A
ENSP00000518642.1:p.Arg195Gln
Search 100 bp 5'
Search 100 bp 3'