ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827119573
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000223544
RCV000465930
RCV001014982
RCV001527024
RCV003469106
ClinVar Variation:
234439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Asp650Asn
CA047182
NM_001322007.2:c.1948G>A