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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:
CA654941255
Gene: POMP
HGNC
NCBI
Linked Data
COSMIC:
COSN20071572
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.28659019_28659037del , CM000675.2:g.28659019_28659037del
GRCh38
NC_000013.10:g.29233156_29233174del , CM000675.1:g.29233156_29233174del
GRCh37
NC_000013.9:g.28131156_28131174del
NCBI36
NG_027550.1:g.5016_5034del
Transcript Alleles
HGVS
Amino-acid change
NM_015932.5:c.-166_-148del
NP_057016.1:n.-166_-148del
Search 100 bp 5'
Search 100 bp 3'