ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827115543
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142447
ClinVar RCV Id:
RCV000131574
RCV000457616
RCV000656947
RCV001249988
RCV003149908
RCV003998108
RCV003894996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308935.1:p.Val415Ile
CA009624
NM_001322006.2:c.1243G>A