ClinGen Allele Registry
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Canonical Allele Identifier:
PA915980600
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000667248
RCV002530709
ClinVar Variation:
552051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.His133Asp
CA381931480
NM_001127180.2:c.397C>G