ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916026140
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000477635
RCV002418417
ClinVar Variation:
411077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.His701Tyr
CA046594
NM_001322014.1:c.2101C>T