ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915980945
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
623785
ClinVar RCV Id:
RCV000761793
RCV001825508
RCV002533881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Pro694Leu
CA6197679
NM_001127180.2:c.2081C>T