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: CA471301613

Gene: PTGES3P4 HGNC NCBI

Linked Data

gnomAD v4: 10-102845666-C-A

MyVariant Identifiers: chr10:g.104605423C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102845666C>A , CM000672.2:g.102845666C>A	GRCh38
NC_000010.10:g.104605423C>A , CM000672.1:g.104605423C>A	GRCh37
NC_000010.9:g.104595413C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000426243.2:n.72C>A

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