ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139690651
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
950452
ClinVar RCV Id:
RCV001222165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268423.1:p.Val830Phe
CA346758857
NM_001281494.2:c.2488G>T