ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827139235
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127780
ClinVar RCV Id:
RCV000115684
RCV000206341
RCV000212871
RCV000411108
RCV000515369
RCV001355417
RCV000759201
RCV003415891
RCV003149800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Asp681Asn
CA011325
NM_001322015.1:c.2041G>A