Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA200280733

Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs866262925

gnomAD v3: 9-127800447-G-A

gnomAD v4: 9-127800447-G-A

MyVariant Identifiers: chr9:g.130562726G>A (hg19) chr9:g.127800447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800447G>A , CM000671.2:g.127800447G>A	GRCh38
NC_000009.11:g.130562726G>A , CM000671.1:g.130562726G>A	GRCh37
NC_000009.10:g.129602547G>A	NCBI36
NG_023245.1:g.2573G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000479147.6:n.217-3838G>A
ENST00000479375.6:n.132-3838G>A

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