ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827114559
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234669
ClinVar RCV Id:
RCV000213923
RCV000699509
RCV001023516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.His170Asn
CA10577350
NM_001322006.2:c.508C>A