Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1039977122

Gene:

Linked Data

dbSNP Id: rs1695371113

gnomAD v3: 2-182820590-ATTACAGGCATGAGCCACCATACCAGGCCTAATGCTTCCTTTTTAATAACTTAGG-A

gnomAD v4: 2-182820590-ATTACAGGCATGAGCCACCATACCAGGCCTAATGCTTCCTTTTTAATAACTTAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.182820594_182820647del , CM000664.2:g.182820594_182820647del	GRCh38
NC_000002.11:g.183685321_183685374del , CM000664.1:g.183685321_183685374del	GRCh37
NC_000002.10:g.183393566_183393619del	NCBI36

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