ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827137819
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000461212
RCV001186458
RCV001193251
RCV001548440
RCV004001878
ClinVar Variation:
411052
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308944.1:p.Ile314Leu
CA16612223
NM_001322015.1:c.940A>C