ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA211651
Gene: MLH1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
133066
ClinVar RCV:
RCV000115452
RCV000148622
RCV000212532
RCV000459634
RCV000656861
RCV000662617
RCV003997259
ClinVar Variation:
127609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000240.1:p.Met383Thr
CA004469
NM_000249.4:c.1148T>C