ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827123161
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115659
RCV000121849
RCV000123081
RCV000656948
RCV000663092
RCV001354802
ClinVar Variation:
127761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Gly391Asp
CA009765
NM_001322008.2:c.1172G>A