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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:
CA2574980214
Gene: PTS
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.112226404del , CM000673.2:g.112226404del
GRCh38
NC_000011.9:g.112097127del , CM000673.1:g.112097127del
GRCh37
NC_000011.8:g.111602337del
NCBI36
NG_008743.1:g.5040del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000280362.7:c.-40del
ENSP00000280362.3:n.-40del
ENST00000525645.1:n.36del
ENST00000528679.5:c.-40del
ENSP00000435895.1:n.-40del
ENST00000531673.5:c.-40del
ENSP00000433469.1:n.-40del
NM_000317.2:c.-40del
NP_000308.1:n.-40del
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