ClinGen Allele Registry
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Canonical Allele Identifier:
CA422484348
Gene:
Linked Data
dbSNP Id:
rs1319453753
MyVariant Identifiers:
chr1:g.192769721A>C (hg19)
chr1:g.192800591A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.192800591A>C , CM000663.2:g.192800591A>C
GRCh38
NC_000001.10:g.192769721A>C , CM000663.1:g.192769721A>C
GRCh37
NC_000001.9:g.191036344A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000429211.2:n.21A>C
Search 100 bp 5'
Search 100 bp 3'