ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828319508
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
844494
ClinVar RCV Id:
RCV001047349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Ile194Val
CA6197201
NM_001369365.1:c.580A>G