ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827115595
Gene: PMS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
182746
ClinVar RCV:
RCV000166845
RCV000474121
RCV000522983
RCV003995538
ClinVar Variation:
187150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Ser430Gly
CA009691
NM_001322006.2:c.1288A>G