ClinGen Allele Registry
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Canonical Allele Identifier:
PA645427330
Gene: MYO7A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000220951
RCV000299195
RCV000337813
RCV000390552
RCV000585568
RCV000787855
RCV001276699
RCV001375348
ClinVar Variation:
229005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Glu1095Lys
CA6198019
NM_000260.4:c.3283G>A