Canonical Allele Identifier: PA2828320423
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_001356294.1:p.Gln951His
CA132270
NM_001369365.1:c.2853G>C
CA381943311
NM_001369365.1:c.2853G>T