ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827129605
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187540
ClinVar RCV Id:
RCV000167278
RCV000213869
RCV000464460
RCV000656950
RCV003491917
RCV003995577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Ile341Phe
CA010544
NM_001322011.2:c.1021A>T