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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1087477657
Gene: BAG6
HGNC
NCBI
Linked Data
dbSNP Id:
rs1800357129
gnomAD v3:
6-31658237-GTCATTCCCACTCCTCCCATTTCAAC-G
gnomAD v4:
6-31658237-GTCATTCCCACTCCTCCCATTTCAAC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31658238_31658262del , CM000668.2:g.31658238_31658262del
GRCh38
NC_000006.11:g.31626015_31626039del , CM000668.1:g.31626015_31626039del
GRCh37
NC_000006.10:g.31733994_31734018del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011514895.1:c.-14+2059_-14+2083del
XP_011513197.1:n.-14+2059_-14+2083del
XM_017011279.2:c.-14+2059_-14+2083del
XP_016866768.1:n.-14+2059_-14+2083del
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