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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:
CA2081141822
Gene: POMP
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28659023_28659024delinsCG , CM000675.2:g.28659023_28659024delinsCG
GRCh38
NC_000013.10:g.29233160_29233161delinsCG , CM000675.1:g.29233160_29233161delinsCG
GRCh37
NC_000013.9:g.28131160_28131161delinsCG
NCBI36
NG_027550.1:g.5020_5021delinsCG
Transcript Alleles
HGVS
Amino-acid change
NM_015932.5:c.-162_-161delinsCG
NP_057016.1:n.-162_-161delinsCG
Search 100 bp 5'
Search 100 bp 3'