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: CA860207750

Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs1415614022

gnomAD v3: 9-127800491-T-A

gnomAD v4: 9-127800491-T-A

MyVariant Identifiers: chr9:g.130562770T>A (hg19) chr9:g.127800491T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800491T>A , CM000671.2:g.127800491T>A	GRCh38
NC_000009.11:g.130562770T>A , CM000671.1:g.130562770T>A	GRCh37
NC_000009.10:g.129602591T>A	NCBI36
NG_023245.1:g.2617T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000479147.6:n.217-3794T>A
ENST00000479375.6:n.132-3794T>A

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