ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827111480
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
525630
ClinVar RCV Id:
RCV000629751
RCV000765962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Leu104Phe
CA366743778
NM_001322005.2:c.310C>T