ClinGen Allele Registry
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Canonical Allele Identifier:
PA119180
Gene: MYOC
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000252.1:p.Arg46Ter
NM_000261.2:c.136C>T