ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025633
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135947
ClinVar RCV Id:
RCV000123094
RCV000165443
RCV000487208
RCV002267863
RCV003483489
RCV003460871
RCV003997419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Arg295Trp
CA013151
NM_001322014.1:c.883C>T