ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100112
Gene: MYOC
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Pro370Leu
CA119171
NM_000261.2:c.1109C>T