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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:
CA2081141821
Gene: POMP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28659022_28659045delinsTCGGCCCCGCGCAGCTCCCTCCGG , CM000675.2:g.28659022_28659045delinsTCGGCCCCGCGCAGCTCCCTCCGG
GRCh38
NC_000013.10:g.29233159_29233182delinsTCGGCCCCGCGCAGCTCCCTCCGG , CM000675.1:g.29233159_29233182delinsTCGGCCCCGCGCAGCTCCCTCCGG
GRCh37
NC_000013.9:g.28131159_28131182delinsTCGGCCCCGCGCAGCTCCCTCCGG
NCBI36
NG_027550.1:g.5019_5042delinsTCGGCCCCGCGCAGCTCCCTCCGG
Transcript Alleles
HGVS
Amino-acid Change
NM_015932.5:c.-163_-140delinsTCGGCCCCGCGCAGCTCCCTCCGG
NP_057016.1:n.-163_-140delinsTCGGCCCCGCGCAGCTCCCTCCGG
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Search 100 bp 3'