ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825627317
Gene: MYO7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Pro1639Ser
CA6198595
NM_001127180.2:c.4915C>T