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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:
PA2827121105
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234669
ClinVar RCV Id:
RCV000213923
RCV000699509
RCV001023516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.His64Asn
CA10577350
NM_001322008.2:c.190C>A