ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827112791
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455669
ClinVar RCV Id:
RCV000550390
RCV000564104
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Asn440Ser
CA366740167
NM_001322005.2:c.1319A>G