ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827127024
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000217885
RCV000480867
RCV000630090
RCV000765956
RCV002271472
RCV003998027
ClinVar Variation:
233100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308939.1:p.Asp339Asn
CA10578673
NM_001322010.2:c.1015G>A