ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026317
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142877
ClinVar RCV Id:
RCV000132336
RCV000469886
RCV002279947
RCV003894999
RCV003477560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Pro855His
CA011663
NM_001322014.1:c.2564C>A