ClinGen Allele Registry
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Canonical Allele Identifier:
CA1139230139
Gene: SFPQP1
HGNC
NCBI
Linked Data
gnomAD v3:
Y-13090408-T-A
gnomAD v4:
Y-13090408-T-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.13090408T>A , CM000686.2:g.13090408T>A
GRCh38
NC_000024.9:g.15202322T>A , CM000686.1:g.15202322T>A
GRCh37
NC_000024.8:g.13711716T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000446621.1:n.556-4167T>A
Search 100 bp 5'
Search 100 bp 3'