ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829005377
Gene: MCTP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371938.1:p.Leu698Pro
CA7750582
NM_001385009.1:c.2093T>C