ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100250
Gene: MYOC
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000252.1:p.Tyr437His
NM_000261.2:c.1309T>C