Canonical Allele Identifier: PA915981088
Gene: MYO7A HGNC NCBI

Linked Data

ClinVar Variation Id: 43194
ClinVar RCV Id: RCV000036098 RCV000585012 RCV001114200 RCV001114201 RCV001114199 RCV001375324
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001120652.1:p.Gln962His
CA132270
NM_001127180.2:c.2886G>C
CA381943311
NM_001127180.2:c.2886G>T