ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916025272
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186188
ClinVar RCV Id:
RCV000165734
RCV000217127
RCV000656945
RCV000411319
RCV001083209
RCV003907523
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.Ile49Met
CA009178
NM_001322012.1:c.147A>G