ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA2540369969
Gene: SFPQP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.13090622G>A , CM000686.2:g.13090622G>A
GRCh38
NC_000024.9:g.15202536G>A , CM000686.1:g.15202536G>A
GRCh37
NC_000024.8:g.13711930G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000446621.1:n.556-3953G>A
Search 100 bp 5'
Search 100 bp 3'