ClinGen Allele Registry
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Canonical Allele Identifier:
PA645427373
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
378221
ClinVar RCV Id:
RCV000421377
RCV000665055
RCV000825981
RCV001273495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Ala1340Thr
CA6198288
NM_000260.4:c.4018G>A