ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827115166
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483849
RCV000538453
RCV000566189
RCV000765958
RCV003470533
RCV004002269
ClinVar Variation:
418758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Gln317Lys
CA052604
NM_001322006.2:c.949C>A