ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827110928
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135944
ClinVar RCV Id:
RCV000129051
RCV000587642
RCV001080227
RCV001175360
RCV003492545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Leu31Pro
CA012179
NM_001322005.2:c.92T>C