ClinGen Allele Registry
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Canonical Allele Identifier:
CA254917
Gene:
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000010552
ClinVar Variation:
9876
dbSNP:
137852555
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.634798G>T , CM000686.2:g.634798G>T
GRCh38
NC_000024.9:g.545533G>T , CM000686.1:g.545533G>T
GRCh37
NC_000024.8:g.515533G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000711141.1:c.458G>T
ENSP00000518639.1:p.Arg153Leu
ENST00000711142.1:c.458G>T
ENSP00000518640.1:p.Arg153Leu
ENST00000711143.1:c.458G>T
ENSP00000518641.1:p.Arg153Leu
ENST00000711145.1:c.458G>T
ENSP00000518642.1:p.Arg153Leu
Search 100 bp 5'
Search 100 bp 3'