Canonical Allele Identifier: CA2206404223
Gene:

Linked Data

dbSNP Id: rs1898216085
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9249581G>C , CM000678.2:g.9249581G>C GRCh38
NC_000016.9:g.9343438G>C , CM000678.1:g.9343438G>C GRCh37
NC_000016.8:g.9250939G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_933054.1:n.70+64848G>C
Search 100 bp 5'
Search 100 bp 3'