ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829005243
Gene: MCTP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371937.1:p.Arg343Gln
CA7749833
NM_001385008.1:c.1028G>A