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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:
PA2827068888
Gene: PMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135041
ClinVar RCV Id:
RCV000121814
ClinVar Variation Id:
708165
ClinVar RCV Id:
RCV000879375
RCV003955790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307976.1:p.Glu59Lys
CA161497
NM_001321047.2:c.174_175delinsTA
CA2026317
NM_001321047.2:c.175G>A