ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827118255
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127757
ClinVar RCV Id:
RCV000123073
RCV000217417
RCV000586084
RCV000855654
RCV003460820
RCV003997286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Asp308Tyr
CA009404
NM_001322007.2:c.922G>T