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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
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Canonical Allele Identifier:
CA2677984433
Gene: BAG6
HGNC
NCBI
Linked Data
gnomAD v4:
6-31658238-TCATTCCCACTCCTCCCATTTCAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31658246_31658268del , CM000668.2:g.31658246_31658268del
GRCh38
NC_000006.11:g.31626023_31626045del , CM000668.1:g.31626023_31626045del
GRCh37
NC_000006.10:g.31734002_31734024del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011514895.1:c.-14+2060_-14+2082del
XP_011513197.1:n.-14+2060_-14+2082del
XM_017011279.2:c.-14+2060_-14+2082del
XP_016866768.1:n.-14+2060_-14+2082del
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