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: CA794637718

Gene: TLR1 HGNC NCBI

Linked Data

dbSNP Id: rs1362436880

gnomAD v3: 4-38811187-G-A

gnomAD v4: 4-38811187-G-A

MyVariant Identifiers: chr4:g.38812808G>A (hg19) chr4:g.38811187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.38811187G>A , CM000666.2:g.38811187G>A	GRCh38
NC_000004.11:g.38812808G>A , CM000666.1:g.38812808G>A	GRCh37
NC_000004.10:g.38489203G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000506146.5:c.-352-5994C>T	ENSP00000423725.1:n.-352-5994C>T

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