ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827110919
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141163
ClinVar RCV Id:
RCV000129553
RCV000696062
RCV000765967
RCV001753510
RCV003460895
RCV003997509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Thr30Ile
CA012165
NM_001322005.2:c.89C>T