ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827135351
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135071
ClinVar RCV Id:
RCV000121859
RCV000460430
RCV000580059
RCV000985912
RCV002483227
RCV003997357
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Gly218Asp
CA012474
NM_001322014.1:c.653G>A