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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:
PA2828436368
Gene: PSPH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13624
ClinVar RCV Id:
RCV000014594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357450.1:p.Met52Thr
CA123296
NM_001370521.1:c.155T>C