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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:
CA1619251041
Gene: BAG6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31658234_31658236delinsGAC , CM000668.2:g.31658234_31658236delinsGAC
GRCh38
NC_000006.11:g.31626011_31626013delinsGAC , CM000668.1:g.31626011_31626013delinsGAC
GRCh37
NC_000006.10:g.31733990_31733992delinsGAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011514895.1:c.-14+2085_-14+2087delinsGTC
XP_011513197.1:n.-14+2085_-14+2087delinsGTC
XM_017011279.2:c.-14+2085_-14+2087delinsGTC
XP_016866768.1:n.-14+2085_-14+2087delinsGTC
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