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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:
CA1162048281
Gene: SMIM12
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.34823511_34823512delinsTA , CM000663.2:g.34823511_34823512delinsTA
GRCh38
NC_000001.10:g.35289112_35289113delinsTA , CM000663.1:g.35289112_35289113delinsTA
GRCh37
NC_000001.9:g.35061699_35061700delinsTA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000426886.1:c.207+32259_207+32260delinsTA
ENSP00000429902.1:n.207+32259_207+32260delinsTA
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