ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827139496
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142688
ClinVar RCV Id:
RCV000132047
RCV000199501
RCV000479601
RCV000656953
RCV003483508
RCV003149910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Ile750Met
CA011680
NM_001322015.1:c.2250C>G