ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827128117
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127783
ClinVar RCV Id:
RCV000115687
RCV000196074
RCV000212874
RCV000656952
RCV003153372
RCV003492487
RCV003467055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Arg626Trp
CA011485
NM_001322010.2:c.1876C>T