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: CA1012520925

Gene:

Linked Data

dbSNP Id: rs1669879436

gnomAD v3: 1-220678235-CTCTTTTCTTTTCTCTTTCTTTCTTTCTTTCTTTCTT-C

gnomAD v4: 1-220678235-CTCTTTTCTTTTCTCTTTCTTTCTTTCTTTCTTTCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220678241_220678276del , CM000663.2:g.220678241_220678276del	GRCh38
NC_000001.10:g.220851583_220851618del , CM000663.1:g.220851583_220851618del	GRCh37
NC_000001.9:g.218918206_218918241del	NCBI36

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