ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829004478
Gene: MCTP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371930.1:p.Leu796Val
CA393928808
NM_001385001.1:c.2386C>G