ClinGen Allele Registry
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Canonical Allele Identifier:
PA915981343
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_001120652.1:p.Ala1340Thr
CA6198288
NM_001127180.2:c.4018G>A