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: CA75934190

Gene: CFAP20DC-DT HGNC NCBI

Linked Data

dbSNP Id: rs148031454

gnomAD v3: 3-59705955-G-A

gnomAD v4: 3-59705955-G-A

MyVariant Identifiers: chr3:g.59691681G>A (hg19) chr3:g.59705955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.59705955G>A , CM000665.2:g.59705955G>A	GRCh38
NC_000003.11:g.59691681G>A , CM000665.1:g.59691681G>A	GRCh37
NC_000003.10:g.59666721G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002959675.1:n.1218-103777G>A

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