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: CA2605106510

Gene: FCER1A HGNC NCBI

Linked Data

dbSNP Id: rs2102213193

gnomAD v3: 1-159288726-A-C

gnomAD v4: 1-159288726-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.159288726A>C , CM000663.2:g.159288726A>C	GRCh38
NC_000001.10:g.159258516A>C , CM000663.1:g.159258516A>C	GRCh37
NC_000001.9:g.157525140A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NM_002001.3:c.-97-990A>C	NP_001992.1:n.-97-990A>C
NM_002001.4:c.-97-990A>C	NP_001992.1:n.-97-990A>C

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