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: CA1121649858

Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs1821543116

gnomAD v3: 9-15120260-C-G

gnomAD v4: 9-15120260-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15120260C>G , CM000671.2:g.15120260C>G	GRCh38
NC_000009.11:g.15120258C>G , CM000671.1:g.15120258C>G	GRCh37
NC_000009.10:g.15110258C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000609203.1:n.549+5470G>C

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