ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100003
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2442283
ClinVar RCV Id:
RCV003148612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Ile345Met
CA343724987
NM_000261.2:c.1035A>G