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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:
CA1246500834
Gene: TMEM178A
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.39731746_39731747delinsAC , CM000664.2:g.39731746_39731747delinsAC
GRCh38
NC_000002.11:g.39958886_39958887delinsAC , CM000664.1:g.39958886_39958887delinsAC
GRCh37
NC_000002.10:g.39812390_39812391delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_024452702.1:c.401-3483_401-3482delinsAC
XP_024308470.1:n.401-3483_401-3482delinsAC
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