ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499248756
Gene: PMS2
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001308943.1:p.Val39Leu
NM_001322014.1:c.115G>C
NM_001322014.1:c.115G>T