ClinGen Allele Registry
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Canonical Allele Identifier:
PA891864174
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
139655
ClinVar RCV:
RCV000128980
RCV000200993
RCV000587673
RCV000662720
RCV000758689
RCV001084082
RCV001093681
RCV001356925
RCV003492544
ClinVar Variation:
135943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Ser128Leu
CA012032
NM_000535.7:c.383C>T