ClinGen Allele Registry
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Canonical Allele Identifier:
PA916025980
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115664
RCV000195776
RCV000212863
RCV001798334
RCV003330439
ClinVar Variation:
127766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Asn575Asp
CA010172
NM_001322014.1:c.1723A>G