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: CA1081653766

Gene: TH2LCRR HGNC NCBI

Linked Data

dbSNP Id: rs1751996338

gnomAD v3: 5-132655326-G-C

gnomAD v4: 5-132655326-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132655326G>C , CM000667.2:g.132655326G>C	GRCh38
NC_000005.9:g.131991018G>C , CM000667.1:g.131991018G>C	GRCh37
NC_000005.8:g.132018917G>C	NCBI36
NG_012090.1:g.2154G>C

Transcript Alleles

HGVS	Amino-acid change
NR_132125.1:n.104+725C>G
NR_132126.1:n.174+393C>G

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