Canonical Allele Identifier: PA2828319989
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 438172
ClinVar RCV Id: RCV000504967 RCV000670176 RCV000681537 RCV001291471 RCV003558426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356294.1:p.Ser606Pro
CA6197628
NM_001369365.1:c.1816T>C