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: CA1026266643

Gene: MIRLET7BHG HGNC NCBI

Linked Data

dbSNP Id: rs1923007569

gnomAD v3: 22-46111819-T-C

gnomAD v4: 22-46111819-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.46111819T>C , CM000684.2:g.46111819T>C	GRCh38
NC_000022.10:g.46507699T>C , CM000684.1:g.46507699T>C	GRCh37
NC_000022.9:g.44886363T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_027033.2:n.2608T>C
NR_110479.1:n.2457T>C

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