ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827119910
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000132336
RCV000469886
RCV002279947
RCV003477560
RCV003894999
ClinVar Variation:
142877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Pro738His
CA011663
NM_001322007.2:c.2213C>A