ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827135594
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000573847
RCV000587439
RCV001049150
RCV001553488
RCV004001071
ClinVar Variation:
484262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Thr277Met
CA051942
NM_001322014.1:c.830C>T