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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:
PA2827132417
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141163
ClinVar RCV Id:
RCV000129553
RCV000696062
RCV000765967
RCV001753510
RCV003460895
RCV003997509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Thr30Ile
CA012165
NM_001322013.1:c.89C>T