ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA230697
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
126985
ClinVar RCV Id:
RCV000114847
RCV000629785
RCV001026384
RCV003320096
RCV003997209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000240.1:p.Ser247Ala
CA011868
NM_000249.4:c.739T>G