ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827134009
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115670
RCV000144642
RCV000200451
RCV000212865
RCV000488189
RCV000515168
RCV000987820
RCV003149799
RCV003483476
ClinVar Variation:
127770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Thr480Met
CA010720
NM_001322013.1:c.1439C>T