ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828320543
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229005
ClinVar RCV Id:
RCV000220951
RCV000337813
RCV000299195
RCV000390552
RCV000585568
RCV000787855
RCV001276699
RCV001375348
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Glu1084Lys
CA6198019
NM_001369365.1:c.3250G>A