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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:
PA109425
Gene: PLG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13575
ClinVar RCV Id:
RCV000014543
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000292.1:p.Val374Phe
CA123265
NM_000301.5:c.1120G>T