Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1129265438

Gene: FPGS HGNC NCBI

Linked Data

dbSNP Id: rs1829551900

gnomAD v3: 9-127800500-A-C

gnomAD v4: 9-127800500-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127800500A>C , CM000671.2:g.127800500A>C	GRCh38
NC_000009.11:g.130562779A>C , CM000671.1:g.130562779A>C	GRCh37
NC_000009.10:g.129602600A>C	NCBI36
NG_023245.1:g.2626A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000479147.6:n.217-3785A>C
ENST00000479375.6:n.132-3785A>C

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