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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:
CA1162048238
Gene: SMIM12
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.34823411_34823421delinsACAAAAGATAC , CM000663.2:g.34823411_34823421delinsACAAAAGATAC
GRCh38
NC_000001.10:g.35289012_35289022delinsACAAAAGATAC , CM000663.1:g.35289012_35289022delinsACAAAAGATAC
GRCh37
NC_000001.9:g.35061599_35061609delinsACAAAAGATAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000426886.1:c.207+32350_207+32360delinsGTATCTTTTGT
ENSP00000429902.1:n.207+32350_207+32360delinsGTATCTTTTGT
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