Canonical Allele Identifier: CA2391130632
Gene:

Linked Data

dbSNP Id: rs1985726784
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168957C>G , CM000683.2:g.43168957C>G GRCh38
NG_009823.1:g.4927C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2080G>C
Search 100 bp 5'
Search 100 bp 3'