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: CA2469952272

Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs2014181769

gnomAD v3: Y-7725957-C-G

gnomAD v4: Y-7725957-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7725957C>G , CM000686.2:g.7725957C>G	GRCh38
NC_000024.9:g.7593998C>G , CM000686.1:g.7593998C>G	GRCh37
NC_000024.8:g.7653998C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651261.1:n.299-12860G>C
ENST00000455527.5:n.680+3500G>C

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