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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:
CA2559042266
Gene: SMIM23
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.171776334del , CM000667.2:g.171776334del
GRCh38
NC_000005.9:g.171203338del , CM000667.1:g.171203338del
GRCh37
NC_000005.8:g.171135943del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011534623.1:c.3+2376del
XP_011532925.1:n.3+2376del
XM_011534624.1:c.3+2376del
XP_011532926.1:n.3+2376del
XM_011534623.2:c.3+2376del
XP_011532925.1:n.3+2376del
XM_011534624.2:c.3+2376del
XP_011532926.1:n.3+2376del
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