ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829004751
Gene: MCTP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371933.1:p.Ala60Thr
CA7749417
NM_001385004.1:c.178G>A