ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499230463
Gene: MYOC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1168919
ClinVar RCV Id:
RCV001519562
RCV003298916
RCV004541969
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000252.1:p.Lys500Arg
CA1244011
NM_000261.2:c.1499A>G