ClinGen Allele Registry
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Canonical Allele Identifier:
CA770128027
Gene: ASB3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1171982304
MyVariant Identifiers:
chr2:g.53782363C>A (hg19)
chr2:g.53555226C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.53555226C>A , CM000664.2:g.53555226C>A
GRCh38
NC_000002.11:g.53782363C>A , CM000664.1:g.53782363C>A
GRCh37
NC_000002.10:g.53635867C>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000406053.5:c.1436-21342G>T
Search 100 bp 5'
Search 100 bp 3'