ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827117138
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135943
ClinVar RCV Id:
RCV000200993
RCV000128980
RCV000662720
RCV000758689
RCV000587673
RCV001084082
RCV001093681
RCV001356925
RCV003492544
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Ser22Leu
CA012032
NM_001322007.2:c.65C>T