Canonical Allele Identifier: CA337725516
Gene: SFPQP1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.13092796A>C , CM000686.2:g.13092796A>C GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000446621.1:n.556-1779A>C